SNP Links for Protein (Select 29366812) - SNP

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Links from Protein

Items: 1 to 20 of 270

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Select item 14892214811.

rs1489221481 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:51003786 (GRCh38)
19:51507042 (GRCh37)
Canonical SPDI:: NC_000019.10:51003783:AGAG:AG
Gene:: KLK9 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/2 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.51003784AG[1], NC_000019.9:g.51507040AG[1], NG_027832.1:g.10848CT[1], NM_012315.2:c.522_523del, NM_012315.1:c.522_523del, NP_036447.1:p.Cys175fs

Select item 14888037392.

rs1488803739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:51003229 (GRCh38)
19:51506485 (GRCh37)
Canonical SPDI:: NC_000019.10:51003228:C:A,NC_000019.10:51003228:C:G
Gene:: KLK8 (Varview), KLK9 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51003229C>A, NC_000019.10:g.51003229C>G, NC_000019.9:g.51506485C>A, NC_000019.9:g.51506485C>G, NG_027832.1:g.11406G>T, NG_027832.1:g.11406G>C, NM_012315.2:c.635G>T, NM_012315.2:c.635G>C, NM_012315.1:c.635G>T, NM_012315.1:c.635G>C, NP_036447.1:p.Gly212Val, NP_036447.1:p.Gly212Ala

Select item 14870086543.

rs1487008654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:51006698 (GRCh38)
19:51509954 (GRCh37)
Canonical SPDI:: NC_000019.10:51006697:G:A,NC_000019.10:51006697:G:T
Gene:: KLK9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.00014/2 (TOMMO)
HGVS:: NC_000019.10:g.51006698G>A, NC_000019.10:g.51006698G>T, NC_000019.9:g.51509954G>A, NC_000019.9:g.51509954G>T, NG_027832.1:g.7937C>T, NG_027832.1:g.7937C>A, NM_012315.2:c.226C>T, NM_012315.2:c.226C>A, NM_012315.1:c.226C>T, NM_012315.1:c.226C>A, NP_036447.1:p.His76Tyr, NP_036447.1:p.His76Asn

Select item 14856983684.

rs1485698368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51006578 (GRCh38)
19:51509834 (GRCh37)
Canonical SPDI:: NC_000019.10:51006577:G:A
Gene:: KLK9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.51006578G>A, NC_000019.9:g.51509834G>A, NG_027832.1:g.8057C>T, NM_012315.2:c.346C>T, NM_012315.1:c.346C>T, NP_036447.1:p.Arg116Cys

Select item 14835730955.

rs1483573095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:51006479 (GRCh38)
19:51509735 (GRCh37)
Canonical SPDI:: NC_000019.10:51006478:C:A
Gene:: KLK9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51006479C>A, NC_000019.9:g.51509735C>A, NG_027832.1:g.8156G>T, NM_012315.2:c.445G>T, NM_012315.1:c.445G>T, NP_036447.1:p.Gly149Trp

Select item 14769790836.

rs1476979083 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:51003724 (GRCh38)
19:51506980 (GRCh37)
Canonical SPDI:: NC_000019.10:51003723:C:G,NC_000019.10:51003723:C:T
Gene:: KLK9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.51003724C>G, NC_000019.10:g.51003724C>T, NC_000019.9:g.51506980C>G, NC_000019.9:g.51506980C>T, NG_027832.1:g.10911G>C, NG_027832.1:g.10911G>A, NM_012315.2:c.583G>C, NM_012315.2:c.583G>A, NM_012315.1:c.583G>C, NM_012315.1:c.583G>A, NP_036447.1:p.Gly195Arg, NP_036447.1:p.Gly195Arg

Select item 14743274877.

rs1474327487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51006494 (GRCh38)
19:51509750 (GRCh37)
Canonical SPDI:: NC_000019.10:51006493:G:A
Gene:: KLK9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51006494G>A, NC_000019.9:g.51509750G>A, NG_027832.1:g.8141C>T, NM_012315.2:c.430C>T, NM_012315.1:c.430C>T, NP_036447.1:p.Leu144Phe

Select item 14670533658.

rs1467053365 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:51009317 (GRCh38)
19:51512573 (GRCh37)
Canonical SPDI:: NC_000019.10:51009316:A:G
Gene:: KLK9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.51009317A>G, NC_000019.9:g.51512573A>G, NG_027832.1:g.5318T>C, NM_012315.2:c.66T>C, NM_012315.1:c.66T>C

Select item 14658695279.

rs1465869527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:51003247 (GRCh38)
19:51506503 (GRCh37)
Canonical SPDI:: NC_000019.10:51003246:C:A,NC_000019.10:51003246:C:T
Gene:: KLK8 (Varview), KLK9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51003247C>A, NC_000019.10:g.51003247C>T, NC_000019.9:g.51506503C>A, NC_000019.9:g.51506503C>T, NG_027832.1:g.11388G>T, NG_027832.1:g.11388G>A, NM_012315.2:c.617G>T, NM_012315.2:c.617G>A, NM_012315.1:c.617G>T, NM_012315.1:c.617G>A, NP_036447.1:p.Gly206Val, NP_036447.1:p.Gly206Asp

Select item 145960221310.

rs1459602213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51003825 (GRCh38)
19:51507081 (GRCh37)
Canonical SPDI:: NC_000019.10:51003824:G:A
Gene:: KLK9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51003825G>A, NC_000019.9:g.51507081G>A, NG_027832.1:g.10810C>T, NM_012315.2:c.482C>T, NM_012315.1:c.482C>T, NP_036447.1:p.Thr161Ile

Select item 145915883011.

rs1459158830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:51003165 (GRCh38)
19:51506421 (GRCh37)
Canonical SPDI:: NC_000019.10:51003164:G:C
Gene:: KLK8 (Varview), KLK9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51003165G>C, NC_000019.9:g.51506421G>C, NG_027832.1:g.11470C>G, NM_012315.2:c.699C>G, NM_012315.1:c.699C>G

Select item 145445860712.

rs1454458607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:51009283 (GRCh38)
19:51512539 (GRCh37)
Canonical SPDI:: NC_000019.10:51009282:G:A
Gene:: KLK9 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51009283G>A, NC_000019.9:g.51512539G>A, NG_027832.1:g.5352C>T, NM_012315.2:c.100C>T, NM_012315.1:c.100C>T, NP_036447.1:p.Gln34Ter

Select item 145252176513.

rs1452521765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51009271 (GRCh38)
19:51512527 (GRCh37)
Canonical SPDI:: NC_000019.10:51009270:C:T
Gene:: KLK9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.51009271C>T, NC_000019.9:g.51512527C>T, NG_027832.1:g.5364G>A, NM_012315.2:c.112G>A, NM_012315.1:c.112G>A, NP_036447.1:p.Ala38Thr

Select item 145187326814.

rs1451873268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:51006463 (GRCh38)
19:51509719 (GRCh37)
Canonical SPDI:: NC_000019.10:51006462:G:C
Gene:: KLK9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.51006463G>C, NC_000019.9:g.51509719G>C, NG_027832.1:g.8172C>G, NM_012315.2:c.461C>G, NM_012315.1:c.461C>G, NP_036447.1:p.Pro154Arg

Select item 145014324615.

rs1450143246 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTAAAAAA [Show Flanks]
Chromosome:: 19:51003194 (GRCh38)
19:51506451 (GRCh37)
Canonical SPDI:: NC_000019.10:51003194::TTAAAAAA
Gene:: KLK8 (Varview), KLK9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.51003194_51003195insTTAAAAAA, NC_000019.9:g.51506450_51506451insTTAAAAAA, NG_027832.1:g.11440_11441insTTTTTTAA, NM_012315.2:c.669_670insTTTTTTAA, NM_012315.1:c.669_670insTTTTTTAA, NP_036447.1:p.Pro224fs

Select item 144282117616.

rs1442821176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:51003721 (GRCh38)
19:51506977 (GRCh37)
Canonical SPDI:: NC_000019.10:51003720:C:G
Gene:: KLK9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.51003721C>G, NC_000019.9:g.51506977C>G, NG_027832.1:g.10914G>C, NM_012315.2:c.586G>C, NM_012315.1:c.586G>C, NP_036447.1:p.Gly196Arg

Select item 144231639817.

rs1442316398 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:51003172 (GRCh38)
19:51506429 (GRCh37)
Canonical SPDI:: NC_000019.10:51003172::T
Gene:: KLK8 (Varview), KLK9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.51003172_51003173insT, NC_000019.9:g.51506428_51506429insT, NG_027832.1:g.11462_11463insA, NM_012315.2:c.691_692insA, NM_012315.1:c.691_692insA, NP_036447.1:p.Pro231fs

Select item 144214398318.

rs1442143983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:51006672 (GRCh38)
19:51509928 (GRCh37)
Canonical SPDI:: NC_000019.10:51006671:C:T
Gene:: KLK9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51006672C>T, NC_000019.9:g.51509928C>T, NG_027832.1:g.7963G>A, NM_012315.2:c.252G>A, NM_012315.1:c.252G>A

Select item 143572757019.

rs1435727570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:51009528 (GRCh38)
19:51512784 (GRCh37)
Canonical SPDI:: NC_000019.10:51009527:C:G
Gene:: KLK9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000031/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51009528C>G, NC_000019.9:g.51512784C>G, NG_027832.1:g.5107G>C, NM_012315.2:c.20G>C, NM_012315.1:c.20G>C, NP_036447.1:p.Cys7Ser

Select item 143421958220.

rs1434219582 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:51006587 (GRCh38)
19:51509843 (GRCh37)
Canonical SPDI:: NC_000019.10:51006586:T:C
Gene:: KLK9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.51006587T>C, NC_000019.9:g.51509843T>C, NG_027832.1:g.8048A>G, NM_012315.2:c.337A>G, NM_012315.1:c.337A>G, NP_036447.1:p.Met113Val