SNP Links for Protein (Select 296317314) - SNP

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Links from Protein

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Select item 14895871681.

rs1489587168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42522048 (GRCh38)
19:43026200 (GRCh37)
Canonical SPDI:: NC_000019.10:42522047:C:T
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview), LOC105372407 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.42522048C>T, NC_000019.9:g.43026200C>T, NG_029051.2:g.11462G>A, NM_001712.5:c.579G>A, NM_001712.4:c.579G>A, NM_001024912.3:c.579G>A, NM_001024912.2:c.579G>A, NM_001205344.2:c.579G>A, NM_001205344.1:c.579G>A, NM_001184815.2:c.579G>A, NM_001184815.1:c.579G>A, NM_001184813.2:c.579G>A, NM_001184813.1:c.579G>A, NM_001184816.2:c.579G>A, NM_001184816.1:c.579G>A, XM_011527206.3:c.579G>A, XM_011527206.2:c.579G>A, XM_011527206.1:c.579G>A

Select item 14876862382.

rs1487686238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:42527102 (GRCh38)
19:43031254 (GRCh37)
Canonical SPDI:: NC_000019.10:42527101:G:C
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.42527102G>C, NC_000019.9:g.43031254G>C, NG_029051.2:g.6408C>G, NM_001712.5:c.363C>G, NM_001712.4:c.363C>G, NM_001024912.3:c.363C>G, NM_001024912.2:c.363C>G, NM_001205344.2:c.363C>G, NM_001205344.1:c.363C>G, NM_001184815.2:c.363C>G, NM_001184815.1:c.363C>G, NM_001184813.2:c.363C>G, NM_001184813.1:c.363C>G, NM_001184816.2:c.363C>G, NM_001184816.1:c.363C>G, XM_011527206.3:c.363C>G, XM_011527206.2:c.363C>G, XM_011527206.1:c.363C>G

Select item 14873001773.

rs1487300177 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:42512472 (GRCh38)
19:43016624 (GRCh37)
Canonical SPDI:: NC_000019.10:42512471:A:G
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.42512472A>G, NC_000019.9:g.43016624A>G, NG_029051.2:g.21038T>C, NM_001712.5:c.1254T>C, NM_001712.4:c.1254T>C, NM_001024912.3:c.1254T>C, NM_001024912.2:c.1254T>C, NM_001205344.2:c.1254T>C, NM_001205344.1:c.1254T>C, NM_001184815.2:c.1059T>C, NM_001184815.1:c.1059T>C, NM_001184813.2:c.966T>C, NM_001184813.1:c.966T>C, NM_001184816.2:c.966T>C, NM_001184816.1:c.966T>C

Select item 14849531154.

rs1484953115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:42522166 (GRCh38)
19:43026318 (GRCh37)
Canonical SPDI:: NC_000019.10:42522165:G:A,NC_000019.10:42522165:G:T
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview), LOC105372407 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.42522166G>A, NC_000019.10:g.42522166G>T, NC_000019.9:g.43026318G>A, NC_000019.9:g.43026318G>T, NG_029051.2:g.11344C>T, NG_029051.2:g.11344C>A, NM_001712.5:c.461C>T, NM_001712.5:c.461C>A, NM_001712.4:c.461C>T, NM_001712.4:c.461C>A, NM_001024912.3:c.461C>T, NM_001024912.3:c.461C>A, NM_001024912.2:c.461C>T, NM_001024912.2:c.461C>A, NM_001205344.2:c.461C>T, NM_001205344.2:c.461C>A, NM_001205344.1:c.461C>T, NM_001205344.1:c.461C>A, NM_001184815.2:c.461C>T, NM_001184815.2:c.461C>A, NM_001184815.1:c.461C>T, NM_001184815.1:c.461C>A, NM_001184813.2:c.461C>T, NM_001184813.2:c.461C>A, NM_001184813.1:c.461C>T, NM_001184813.1:c.461C>A, NM_001184816.2:c.461C>T, NM_001184816.2:c.461C>A, NM_001184816.1:c.461C>T, NM_001184816.1:c.461C>A, XM_011527206.3:c.461C>T, XM_011527206.3:c.461C>A, XM_011527206.2:c.461C>T, XM_011527206.2:c.461C>A, XM_011527206.1:c.461C>T, XM_011527206.1:c.461C>A, NP_001703.2:p.Ser154Phe, NP_001703.2:p.Ser154Tyr, NP_001020083.1:p.Ser154Phe, NP_001020083.1:p.Ser154Tyr, NP_001192273.1:p.Ser154Phe, NP_001192273.1:p.Ser154Tyr, NP_001171744.1:p.Ser154Phe, NP_001171744.1:p.Ser154Tyr, NP_001171742.1:p.Ser154Phe, NP_001171742.1:p.Ser154Tyr, NP_001171745.1:p.Ser154Phe, NP_001171745.1:p.Ser154Tyr, XP_011525508.1:p.Ser154Phe, XP_011525508.1:p.Ser154Tyr

Select item 14747561705.

rs1474756170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:42521296 (GRCh38)
19:43025448 (GRCh37)
Canonical SPDI:: NC_000019.10:42521295:C:G
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview), LOC105372407 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42521296C>G, NC_000019.9:g.43025448C>G, NG_029051.2:g.12214G>C, NM_001712.5:c.929G>C, NM_001712.4:c.929G>C, NM_001024912.3:c.929G>C, NM_001024912.2:c.929G>C, NM_001205344.2:c.929G>C, NM_001205344.1:c.929G>C, NM_001184815.2:c.929G>C, NM_001184815.1:c.929G>C, NM_001184813.2:c.929G>C, NM_001184813.1:c.929G>C, NM_001184816.2:c.929G>C, NM_001184816.1:c.929G>C, XM_011527206.3:c.929G>C, XM_011527206.2:c.929G>C, XM_011527206.1:c.929G>C, NP_001703.2:p.Arg310Thr, NP_001020083.1:p.Arg310Thr, NP_001192273.1:p.Arg310Thr, NP_001171744.1:p.Arg310Thr, NP_001171742.1:p.Arg310Thr, NP_001171745.1:p.Arg310Thr, XP_011525508.1:p.Arg310Thr

Select item 14736240316.

rs1473624031 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:42521422 (GRCh38)
19:43025574 (GRCh37)
Canonical SPDI:: NC_000019.10:42521421:T:C
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview), LOC105372407 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42521422T>C, NC_000019.9:g.43025574T>C, NG_029051.2:g.12088A>G, NM_001712.5:c.803A>G, NM_001712.4:c.803A>G, NM_001024912.3:c.803A>G, NM_001024912.2:c.803A>G, NM_001205344.2:c.803A>G, NM_001205344.1:c.803A>G, NM_001184815.2:c.803A>G, NM_001184815.1:c.803A>G, NM_001184813.2:c.803A>G, NM_001184813.1:c.803A>G, NM_001184816.2:c.803A>G, NM_001184816.1:c.803A>G, XM_011527206.3:c.803A>G, XM_011527206.2:c.803A>G, XM_011527206.1:c.803A>G, NP_001703.2:p.Gln268Arg, NP_001020083.1:p.Gln268Arg, NP_001192273.1:p.Gln268Arg, NP_001171744.1:p.Gln268Arg, NP_001171742.1:p.Gln268Arg, NP_001171745.1:p.Gln268Arg, XP_011525508.1:p.Gln268Arg

Select item 14716540667.

rs1471654066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:42527119 (GRCh38)
19:43031271 (GRCh37)
Canonical SPDI:: NC_000019.10:42527118:C:A,NC_000019.10:42527118:C:T
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.42527119C>A, NC_000019.10:g.42527119C>T, NC_000019.9:g.43031271C>A, NC_000019.9:g.43031271C>T, NG_029051.2:g.6391G>T, NG_029051.2:g.6391G>A, NM_001712.5:c.346G>T, NM_001712.5:c.346G>A, NM_001712.4:c.346G>T, NM_001712.4:c.346G>A, NM_001024912.3:c.346G>T, NM_001024912.3:c.346G>A, NM_001024912.2:c.346G>T, NM_001024912.2:c.346G>A, NM_001205344.2:c.346G>T, NM_001205344.2:c.346G>A, NM_001205344.1:c.346G>T, NM_001205344.1:c.346G>A, NM_001184815.2:c.346G>T, NM_001184815.2:c.346G>A, NM_001184815.1:c.346G>T, NM_001184815.1:c.346G>A, NM_001184813.2:c.346G>T, NM_001184813.2:c.346G>A, NM_001184813.1:c.346G>T, NM_001184813.1:c.346G>A, NM_001184816.2:c.346G>T, NM_001184816.2:c.346G>A, NM_001184816.1:c.346G>T, NM_001184816.1:c.346G>A, XM_011527206.3:c.346G>T, XM_011527206.3:c.346G>A, XM_011527206.2:c.346G>T, XM_011527206.2:c.346G>A, XM_011527206.1:c.346G>T, XM_011527206.1:c.346G>A, NP_001703.2:p.Asp116Tyr, NP_001703.2:p.Asp116Asn, NP_001020083.1:p.Asp116Tyr, NP_001020083.1:p.Asp116Asn, NP_001192273.1:p.Asp116Tyr, NP_001192273.1:p.Asp116Asn, NP_001171744.1:p.Asp116Tyr, NP_001171744.1:p.Asp116Asn, NP_001171742.1:p.Asp116Tyr, NP_001171742.1:p.Asp116Asn, NP_001171745.1:p.Asp116Tyr, NP_001171745.1:p.Asp116Asn, XP_011525508.1:p.Asp116Tyr, XP_011525508.1:p.Asp116Asn

Select item 14666570038.

rs1466657003 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:42521927 (GRCh38)
19:43026079 (GRCh37)
Canonical SPDI:: NC_000019.10:42521925:GTG:G
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview), LOC105372407 (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42521927_42521928del, NC_000019.9:g.43026079_43026080del, NG_029051.2:g.11583_11584del, NM_001712.5:c.700_701del, NM_001712.4:c.700_701del, NM_001024912.3:c.700_701del, NM_001024912.2:c.700_701del, NM_001205344.2:c.700_701del, NM_001205344.1:c.700_701del, NM_001184815.2:c.700_701del, NM_001184815.1:c.700_701del, NM_001184813.2:c.700_701del, NM_001184813.1:c.700_701del, NM_001184816.2:c.700_701del, NM_001184816.1:c.700_701del, XM_011527206.3:c.700_701del, XM_011527206.2:c.700_701del, XM_011527206.1:c.700_701del, NP_001703.2:p.Thr234fs, NP_001020083.1:p.Thr234fs, NP_001192273.1:p.Thr234fs, NP_001171744.1:p.Thr234fs, NP_001171742.1:p.Thr234fs, NP_001171745.1:p.Thr234fs, XP_011525508.1:p.Thr234fs

Select item 14577500689.

rs1457750068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:42521998 (GRCh38)
19:43026150 (GRCh37)
Canonical SPDI:: NC_000019.10:42521997:G:C
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview), LOC105372407 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42521998G>C, NC_000019.9:g.43026150G>C, NG_029051.2:g.11512C>G, NM_001712.5:c.629C>G, NM_001712.4:c.629C>G, NM_001024912.3:c.629C>G, NM_001024912.2:c.629C>G, NM_001205344.2:c.629C>G, NM_001205344.1:c.629C>G, NM_001184815.2:c.629C>G, NM_001184815.1:c.629C>G, NM_001184813.2:c.629C>G, NM_001184813.1:c.629C>G, NM_001184816.2:c.629C>G, NM_001184816.1:c.629C>G, XM_011527206.3:c.629C>G, XM_011527206.2:c.629C>G, XM_011527206.1:c.629C>G, NP_001703.2:p.Thr210Arg, NP_001020083.1:p.Thr210Arg, NP_001192273.1:p.Thr210Arg, NP_001171744.1:p.Thr210Arg, NP_001171742.1:p.Thr210Arg, NP_001171745.1:p.Thr210Arg, XP_011525508.1:p.Thr210Arg

Select item 145591567010.

rs1455915670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:42521332 (GRCh38)
19:43025484 (GRCh37)
Canonical SPDI:: NC_000019.10:42521331:G:A,NC_000019.10:42521331:G:T
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview), LOC105372407 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42521332G>A, NC_000019.10:g.42521332G>T, NC_000019.9:g.43025484G>A, NC_000019.9:g.43025484G>T, NG_029051.2:g.12178C>T, NG_029051.2:g.12178C>A, NM_001712.5:c.893C>T, NM_001712.5:c.893C>A, NM_001712.4:c.893C>T, NM_001712.4:c.893C>A, NM_001024912.3:c.893C>T, NM_001024912.3:c.893C>A, NM_001024912.2:c.893C>T, NM_001024912.2:c.893C>A, NM_001205344.2:c.893C>T, NM_001205344.2:c.893C>A, NM_001205344.1:c.893C>T, NM_001205344.1:c.893C>A, NM_001184815.2:c.893C>T, NM_001184815.2:c.893C>A, NM_001184815.1:c.893C>T, NM_001184815.1:c.893C>A, NM_001184813.2:c.893C>T, NM_001184813.2:c.893C>A, NM_001184813.1:c.893C>T, NM_001184813.1:c.893C>A, NM_001184816.2:c.893C>T, NM_001184816.2:c.893C>A, NM_001184816.1:c.893C>T, NM_001184816.1:c.893C>A, XM_011527206.3:c.893C>T, XM_011527206.3:c.893C>A, XM_011527206.2:c.893C>T, XM_011527206.2:c.893C>A, XM_011527206.1:c.893C>T, XM_011527206.1:c.893C>A, NP_001703.2:p.Thr298Ile, NP_001703.2:p.Thr298Asn, NP_001020083.1:p.Thr298Ile, NP_001020083.1:p.Thr298Asn, NP_001192273.1:p.Thr298Ile, NP_001192273.1:p.Thr298Asn, NP_001171744.1:p.Thr298Ile, NP_001171744.1:p.Thr298Asn, NP_001171742.1:p.Thr298Ile, NP_001171742.1:p.Thr298Asn, NP_001171745.1:p.Thr298Ile, NP_001171745.1:p.Thr298Asn, XP_011525508.1:p.Thr298Ile, XP_011525508.1:p.Thr298Asn

Select item 145259967711.

rs1452599677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42521283 (GRCh38)
19:43025435 (GRCh37)
Canonical SPDI:: NC_000019.10:42521282:C:T
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview), LOC105372407 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42521283C>T, NC_000019.9:g.43025435C>T, NG_029051.2:g.12227G>A, NM_001712.5:c.942G>A, NM_001712.4:c.942G>A, NM_001024912.3:c.942G>A, NM_001024912.2:c.942G>A, NM_001205344.2:c.942G>A, NM_001205344.1:c.942G>A, NM_001184815.2:c.942G>A, NM_001184815.1:c.942G>A, NM_001184813.2:c.942G>A, NM_001184813.1:c.942G>A, NM_001184816.2:c.942G>A, NM_001184816.1:c.942G>A, XM_011527206.3:c.942G>A, XM_011527206.2:c.942G>A, XM_011527206.1:c.942G>A

Select item 145088504712.

rs1450885047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42521470 (GRCh38)
19:43025622 (GRCh37)
Canonical SPDI:: NC_000019.10:42521469:C:T
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview), LOC105372407 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42521470C>T, NC_000019.9:g.43025622C>T, NG_029051.2:g.12040G>A, NM_001712.5:c.755G>A, NM_001712.4:c.755G>A, NM_001024912.3:c.755G>A, NM_001024912.2:c.755G>A, NM_001205344.2:c.755G>A, NM_001205344.1:c.755G>A, NM_001184815.2:c.755G>A, NM_001184815.1:c.755G>A, NM_001184813.2:c.755G>A, NM_001184813.1:c.755G>A, NM_001184816.2:c.755G>A, NM_001184816.1:c.755G>A, XM_011527206.3:c.755G>A, XM_011527206.2:c.755G>A, XM_011527206.1:c.755G>A, NP_001703.2:p.Gly252Glu, NP_001020083.1:p.Gly252Glu, NP_001192273.1:p.Gly252Glu, NP_001171744.1:p.Gly252Glu, NP_001171742.1:p.Gly252Glu, NP_001171745.1:p.Gly252Glu, XP_011525508.1:p.Gly252Glu

Select item 144177273613.

rs1441772736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:42522035 (GRCh38)
19:43026187 (GRCh37)
Canonical SPDI:: NC_000019.10:42522034:T:C
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview), LOC105372407 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.42522035T>C, NC_000019.9:g.43026187T>C, NG_029051.2:g.11475A>G, NM_001712.5:c.592A>G, NM_001712.4:c.592A>G, NM_001024912.3:c.592A>G, NM_001024912.2:c.592A>G, NM_001205344.2:c.592A>G, NM_001205344.1:c.592A>G, NM_001184815.2:c.592A>G, NM_001184815.1:c.592A>G, NM_001184813.2:c.592A>G, NM_001184813.1:c.592A>G, NM_001184816.2:c.592A>G, NM_001184816.1:c.592A>G, XM_011527206.3:c.592A>G, XM_011527206.2:c.592A>G, XM_011527206.1:c.592A>G, NP_001703.2:p.Arg198Gly, NP_001020083.1:p.Arg198Gly, NP_001192273.1:p.Arg198Gly, NP_001171744.1:p.Arg198Gly, NP_001171742.1:p.Arg198Gly, NP_001171745.1:p.Arg198Gly, XP_011525508.1:p.Arg198Gly

Select item 144010539114.

rs1440105391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:42521511 (GRCh38)
19:43025663 (GRCh37)
Canonical SPDI:: NC_000019.10:42521510:G:A,NC_000019.10:42521510:G:C
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview), LOC105372407 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42521511G>A, NC_000019.10:g.42521511G>C, NC_000019.9:g.43025663G>A, NC_000019.9:g.43025663G>C, NG_029051.2:g.11999C>T, NG_029051.2:g.11999C>G, NM_001712.5:c.714C>T, NM_001712.5:c.714C>G, NM_001712.4:c.714C>T, NM_001712.4:c.714C>G, NM_001024912.3:c.714C>T, NM_001024912.3:c.714C>G, NM_001024912.2:c.714C>T, NM_001024912.2:c.714C>G, NM_001205344.2:c.714C>T, NM_001205344.2:c.714C>G, NM_001205344.1:c.714C>T, NM_001205344.1:c.714C>G, NM_001184815.2:c.714C>T, NM_001184815.2:c.714C>G, NM_001184815.1:c.714C>T, NM_001184815.1:c.714C>G, NM_001184813.2:c.714C>T, NM_001184813.2:c.714C>G, NM_001184813.1:c.714C>T, NM_001184813.1:c.714C>G, NM_001184816.2:c.714C>T, NM_001184816.2:c.714C>G, NM_001184816.1:c.714C>T, NM_001184816.1:c.714C>G, XM_011527206.3:c.714C>T, XM_011527206.3:c.714C>G, XM_011527206.2:c.714C>T, XM_011527206.2:c.714C>G, XM_011527206.1:c.714C>T, XM_011527206.1:c.714C>G, NP_001703.2:p.Asp238Glu, NP_001020083.1:p.Asp238Glu, NP_001192273.1:p.Asp238Glu, NP_001171744.1:p.Asp238Glu, NP_001171742.1:p.Asp238Glu, NP_001171745.1:p.Asp238Glu, XP_011525508.1:p.Asp238Glu

Select item 143928963115.

rs1439289631 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 19:42527253 (GRCh38)
19:43031405 (GRCh37)
Canonical SPDI:: NC_000019.10:42527252:TC:
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42527253_42527254del, NC_000019.9:g.43031405_43031406del, NG_029051.2:g.6256_6257del, NM_001712.5:c.211_212del, NM_001712.4:c.211_212del, NM_001024912.3:c.211_212del, NM_001024912.2:c.211_212del, NM_001205344.2:c.211_212del, NM_001205344.1:c.211_212del, NM_001184815.2:c.211_212del, NM_001184815.1:c.211_212del, NM_001184813.2:c.211_212del, NM_001184813.1:c.211_212del, NM_001184816.2:c.211_212del, NM_001184816.1:c.211_212del, XM_011527206.3:c.211_212del, XM_011527206.2:c.211_212del, XM_011527206.1:c.211_212del, NP_001703.2:p.Glu71fs, NP_001020083.1:p.Glu71fs, NP_001192273.1:p.Glu71fs, NP_001171744.1:p.Glu71fs, NP_001171742.1:p.Glu71fs, NP_001171745.1:p.Glu71fs, XP_011525508.1:p.Glu71fs

Select item 143861513616.

rs1438615136 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:42512436 (GRCh38)
19:43016588 (GRCh37)
Canonical SPDI:: NC_000019.10:42512435:A:G
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42512436A>G, NC_000019.9:g.43016588A>G, NG_029051.2:g.21074T>C, NM_001712.5:c.1290T>C, NM_001712.4:c.1290T>C, NM_001024912.3:c.1290T>C, NM_001024912.2:c.1290T>C, NM_001205344.2:c.1290T>C, NM_001205344.1:c.1290T>C, NM_001184815.2:c.1095T>C, NM_001184815.1:c.1095T>C, NM_001184813.2:c.1002T>C, NM_001184813.1:c.1002T>C, NM_001184816.2:c.1002T>C, NM_001184816.1:c.1002T>C

Select item 143740164317.

rs1437401643 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:42528368 (GRCh38)
19:43032520 (GRCh37)
Canonical SPDI:: NC_000019.10:42528367:G:
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42528368del, NC_000019.9:g.43032520del, NG_029051.2:g.5142del, NM_001712.5:c.7del, NM_001712.4:c.7del, NM_001024912.3:c.7del, NM_001024912.2:c.7del, NM_001205344.2:c.7del, NM_001205344.1:c.7del, NM_001184815.2:c.7del, NM_001184815.1:c.7del, NM_001184813.2:c.7del, NM_001184813.1:c.7del, NM_001184816.2:c.7del, NM_001184816.1:c.7del, XM_011527206.3:c.7del, XM_011527206.2:c.7del, XM_011527206.1:c.7del, NP_001703.2:p.His3fs, NP_001020083.1:p.His3fs, NP_001192273.1:p.His3fs, NP_001171744.1:p.His3fs, NP_001171742.1:p.His3fs, NP_001171745.1:p.His3fs, XP_011525508.1:p.His3fs

Select item 143600169418.

rs1436001694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42521373 (GRCh38)
19:43025525 (GRCh37)
Canonical SPDI:: NC_000019.10:42521372:G:A
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview), LOC105372407 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42521373G>A, NC_000019.9:g.43025525G>A, NG_029051.2:g.12137C>T, NM_001712.5:c.852C>T, NM_001712.4:c.852C>T, NM_001024912.3:c.852C>T, NM_001024912.2:c.852C>T, NM_001205344.2:c.852C>T, NM_001205344.1:c.852C>T, NM_001184815.2:c.852C>T, NM_001184815.1:c.852C>T, NM_001184813.2:c.852C>T, NM_001184813.1:c.852C>T, NM_001184816.2:c.852C>T, NM_001184816.1:c.852C>T, XM_011527206.3:c.852C>T, XM_011527206.2:c.852C>T, XM_011527206.1:c.852C>T

Select item 143015381219.

rs1430153812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42527332 (GRCh38)
19:43031484 (GRCh37)
Canonical SPDI:: NC_000019.10:42527331:C:T
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42527332C>T, NC_000019.9:g.43031484C>T, NG_029051.2:g.6178G>A, NM_001712.5:c.133G>A, NM_001712.4:c.133G>A, NM_001024912.3:c.133G>A, NM_001024912.2:c.133G>A, NM_001205344.2:c.133G>A, NM_001205344.1:c.133G>A, NM_001184815.2:c.133G>A, NM_001184815.1:c.133G>A, NM_001184813.2:c.133G>A, NM_001184813.1:c.133G>A, NM_001184816.2:c.133G>A, NM_001184816.1:c.133G>A, XM_011527206.3:c.133G>A, XM_011527206.2:c.133G>A, XM_011527206.1:c.133G>A, NP_001703.2:p.Val45Ile, NP_001020083.1:p.Val45Ile, NP_001192273.1:p.Val45Ile, NP_001171744.1:p.Val45Ile, NP_001171742.1:p.Val45Ile, NP_001171745.1:p.Val45Ile, XP_011525508.1:p.Val45Ile

Select item 142266864420.

rs1422668644 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:42512425 (GRCh38)
19:43016577 (GRCh37)
Canonical SPDI:: NC_000019.10:42512424:A:T
Gene:: CEACAM1 (Varview), LIPE-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42512425A>T, NC_000019.9:g.43016577A>T, NG_029051.2:g.21085T>A, NM_001712.5:c.1301T>A, NM_001712.4:c.1301T>A, NM_001024912.3:c.1301T>A, NM_001024912.2:c.1301T>A, NM_001205344.2:c.1301T>A, NM_001205344.1:c.1301T>A, NM_001184815.2:c.1106T>A, NM_001184815.1:c.1106T>A, NM_001184813.2:c.1013T>A, NM_001184813.1:c.1013T>A, NM_001184816.2:c.1013T>A, NM_001184816.1:c.1013T>A, NP_001703.2:p.Val434Glu, NP_001020083.1:p.Val434Glu, NP_001192273.1:p.Val434Glu, NP_001171744.1:p.Val369Glu, NP_001171742.1:p.Val338Glu, NP_001171745.1:p.Val338Glu

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