SNP Links for Protein (Select 982742419) - SNP

Links from Protein

Items: 1 to 20 of 495

<< First< Prev

Page of 25

Next >Last >>

Select item 14854728751.

rs1485472875 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:126575420 (GRCh38)
5:125911112 (GRCh37)
Canonical SPDI:: NC_000005.10:126575419:T:C
Gene:: ALDH7A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000005.10:g.126575420T>C, NC_000005.9:g.125911112T>C, NG_008600.3:g.24971A>G, NM_001182.5:c.695A>G, NM_001182.4:c.695A>G, NM_001201377.2:c.611A>G, NM_001201377.1:c.611A>G, NM_001202404.2:c.695A>G, NM_001202404.1:c.695A>G, NP_001173.2:p.Lys232Arg, NP_001188306.1:p.Lys204Arg, NP_001189333.2:p.Lys232Arg

Select item 14847654012.

rs1484765401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:126577183 (GRCh38)
5:125912875 (GRCh37)
Canonical SPDI:: NC_000005.10:126577182:C:T
Gene:: ALDH7A1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.126577183C>T, NC_000005.9:g.125912875C>T, NG_008600.3:g.23208G>A, NM_001182.5:c.546G>A, NM_001182.4:c.546G>A, NM_001201377.2:c.462G>A, NM_001201377.1:c.462G>A, NM_001202404.2:c.546G>A, NM_001202404.1:c.546G>A, NP_001173.2:p.Trp182Ter, NP_001188306.1:p.Trp154Ter, NP_001189333.2:p.Trp182Ter

Select item 14844843873.

rs1484484387 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:126582881 (GRCh38)
5:125918573 (GRCh37)
Canonical SPDI:: NC_000005.10:126582880:T:C,NC_000005.10:126582880:T:G
Gene:: ALDH7A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.126582881T>C, NC_000005.10:g.126582881T>G, NC_000005.9:g.125918573T>C, NC_000005.9:g.125918573T>G, NG_008600.3:g.17510A>G, NG_008600.3:g.17510A>C, NM_001182.5:c.487A>G, NM_001182.5:c.487A>C, NM_001182.4:c.487A>G, NM_001182.4:c.487A>C, NM_001201377.2:c.403A>G, NM_001201377.2:c.403A>C, NM_001201377.1:c.403A>G, NM_001201377.1:c.403A>C, NM_001202404.2:c.487A>G, NM_001202404.2:c.487A>C, NM_001202404.1:c.487A>G, NM_001202404.1:c.487A>C, NP_001173.2:p.Met163Val, NP_001173.2:p.Met163Leu, NP_001188306.1:p.Met135Val, NP_001188306.1:p.Met135Leu, NP_001189333.2:p.Met163Val, NP_001189333.2:p.Met163Leu

Select item 14814412034.

rs1481441203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:126582938 (GRCh38)
5:125918630 (GRCh37)
Canonical SPDI:: NC_000005.10:126582937:C:T
Gene:: ALDH7A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.126582938C>T, NC_000005.9:g.125918630C>T, NG_008600.3:g.17453G>A, NM_001182.5:c.430G>A, NM_001182.4:c.430G>A, NM_001201377.2:c.346G>A, NM_001201377.1:c.346G>A, NM_001202404.2:c.430G>A, NM_001202404.1:c.430G>A, NP_001173.2:p.Val144Met, NP_001188306.1:p.Val116Met, NP_001189333.2:p.Val144Met

Select item 14808366715.

rs1480836671 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:126595032 (GRCh38)
5:125930724 (GRCh37)
Canonical SPDI:: NC_000005.10:126595031:T:A
Gene:: ALDH7A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.126595032T>A, NC_000005.9:g.125930724T>A, NG_008600.3:g.5359A>T, NM_001182.5:c.167A>T, NM_001182.4:c.167A>T, NM_001201377.2:c.83A>T, NM_001201377.1:c.83A>T, NM_001202404.2:c.167A>T, NM_001202404.1:c.167A>T, NP_001173.2:p.Asn56Ile, NP_001188306.1:p.Asn28Ile, NP_001189333.2:p.Asn56Ile

Select item 14731028726.

rs1473102872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:126575429 (GRCh38)
5:125911121 (GRCh37)
Canonical SPDI:: NC_000005.10:126575428:G:A
Gene:: ALDH7A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.126575429G>A, NC_000005.9:g.125911121G>A, NG_008600.3:g.24962C>T, NM_001182.5:c.686C>T, NM_001182.4:c.686C>T, NM_001201377.2:c.602C>T, NM_001201377.1:c.602C>T, NM_001202404.2:c.686C>T, NM_001202404.1:c.686C>T, NP_001173.2:p.Ala229Val, NP_001188306.1:p.Ala201Val, NP_001189333.2:p.Ala229Val

Select item 14726710627.

rs1472671062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:126577197 (GRCh38)
5:125912889 (GRCh37)
Canonical SPDI:: NC_000005.10:126577196:G:C
Gene:: ALDH7A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.126577197G>C, NC_000005.9:g.125912889G>C, NG_008600.3:g.23194C>G, NM_001182.5:c.532C>G, NM_001182.4:c.532C>G, NM_001201377.2:c.448C>G, NM_001201377.1:c.448C>G, NM_001202404.2:c.532C>G, NM_001202404.1:c.532C>G, NP_001173.2:p.Leu178Val, NP_001188306.1:p.Leu150Val, NP_001189333.2:p.Leu178Val

Select item 14716044218.

rs1471604421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:126552103 (GRCh38)
5:125887795 (GRCh37)
Canonical SPDI:: NC_000005.10:126552102:G:A
Gene:: ALDH7A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance,likely-pathogenic
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.126552103G>A, NC_000005.9:g.125887795G>A, NG_008600.3:g.48288C>T, NM_001182.5:c.1235C>T, NM_001182.4:c.1235C>T, NM_001201377.2:c.1151C>T, NM_001201377.1:c.1151C>T, NM_001202404.2:c.1043C>T, NM_001202404.1:c.1043C>T, NP_001173.2:p.Thr412Ile, NP_001188306.1:p.Thr384Ile, NP_001189333.2:p.Thr348Ile

Select item 14675210699.

rs1467521069 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:126583938 (GRCh38)
5:125919630 (GRCh37)
Canonical SPDI:: NC_000005.10:126583937:T:G
Gene:: ALDH7A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign,uncertain-significance
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.126583938T>G, NC_000005.9:g.125919630T>G, NG_008600.3:g.16453A>C, NM_001182.5:c.387A>C, NM_001182.4:c.387A>C, NM_001201377.2:c.303A>C, NM_001201377.1:c.303A>C, NM_001202404.2:c.387A>C, NM_001202404.1:c.387A>C

Select item 146554024710.

rs1465540247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:126595164 (GRCh38)
5:125930856 (GRCh37)
Canonical SPDI:: NC_000005.10:126595163:G:A,NC_000005.10:126595163:G:C
Gene:: ALDH7A1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.126595164G>A, NC_000005.10:g.126595164G>C, NC_000005.9:g.125930856G>A, NC_000005.9:g.125930856G>C, NG_008600.3:g.5227C>T, NG_008600.3:g.5227C>G, NM_001182.5:c.35C>T, NM_001182.5:c.35C>G, NM_001182.4:c.35C>T, NM_001182.4:c.35C>G, NM_001201377.2:c.-50C>T, NM_001201377.2:c.-50C>G, NM_001201377.1:c.-50C>T, NM_001201377.1:c.-50C>G, NM_001202404.2:c.35C>T, NM_001202404.2:c.35C>G, NM_001202404.1:c.35C>T, NM_001202404.1:c.35C>G, NP_001173.2:p.Ala12Val, NP_001173.2:p.Ala12Gly, NP_001189333.2:p.Ala12Val, NP_001189333.2:p.Ala12Gly

Select item 146345934311.

rs1463459343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:126592670 (GRCh38)
5:125928362 (GRCh37)
Canonical SPDI:: NC_000005.10:126592669:C:T
Gene:: ALDH7A1 (Varview)
Functional Consequence:: stop_gained,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_000005.10:g.126592670C>T, NC_000005.9:g.125928362C>T, NG_008600.3:g.7721G>A, NM_001182.5:c.306G>A, NM_001182.4:c.306G>A, NM_001201377.2:c.222G>A, NM_001201377.1:c.222G>A, NM_001202404.2:c.306G>A, NM_001202404.1:c.306G>A, NP_001173.2:p.Trp102Ter, NP_001188306.1:p.Trp74Ter, NP_001189333.2:p.Trp102Ter

Select item 146344790212.

rs1463447902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:126552068 (GRCh38)
5:125887760 (GRCh37)
Canonical SPDI:: NC_000005.10:126552067:C:T
Gene:: ALDH7A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.126552068C>T, NC_000005.9:g.125887760C>T, NG_008600.3:g.48323G>A, NM_001182.5:c.1270G>A, NM_001182.4:c.1270G>A, NM_001201377.2:c.1186G>A, NM_001201377.1:c.1186G>A, NM_001202404.2:c.1078G>A, NM_001202404.1:c.1078G>A, NP_001173.2:p.Ala424Thr, NP_001188306.1:p.Ala396Thr, NP_001189333.2:p.Ala360Thr

Select item 145753866213.

rs1457538662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:126595081 (GRCh38)
5:125930773 (GRCh37)
Canonical SPDI:: NC_000005.10:126595080:C:T
Gene:: ALDH7A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.126595081C>T, NC_000005.9:g.125930773C>T, NG_008600.3:g.5310G>A, NM_001182.5:c.118G>A, NM_001182.4:c.118G>A, NM_001201377.2:c.34G>A, NM_001201377.1:c.34G>A, NM_001202404.2:c.118G>A, NM_001202404.1:c.118G>A, NP_001173.2:p.Ala40Thr, NP_001188306.1:p.Ala12Thr, NP_001189333.2:p.Ala40Thr

Select item 145551427914.

rs1455514279 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:126568315 (GRCh38)
5:125904007 (GRCh37)
Canonical SPDI:: NC_000005.10:126568314:A:G
Gene:: ALDH7A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.126568315A>G, NC_000005.9:g.125904007A>G, NG_008600.3:g.32076T>C, NM_001182.5:c.815T>C, NM_001182.4:c.815T>C, NM_001201377.2:c.731T>C, NM_001201377.1:c.731T>C, NM_001202404.2:c.815T>C, NM_001202404.1:c.815T>C, NP_001173.2:p.Phe272Ser, NP_001188306.1:p.Phe244Ser, NP_001189333.2:p.Phe272Ser

Select item 145500655215.

rs1455006552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:126546366 (GRCh38)
5:125882058 (GRCh37)
Canonical SPDI:: NC_000005.10:126546365:G:C
Gene:: ALDH7A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.126546366G>C, NC_000005.9:g.125882058G>C, NG_008600.3:g.54025C>G, NM_001182.5:c.1523C>G, NM_001182.4:c.1523C>G, NM_001201377.2:c.1439C>G, NM_001201377.1:c.1439C>G, NM_001202404.2:c.1331C>G, NM_001202404.1:c.1331C>G, NP_001173.2:p.Ser508Cys, NP_001188306.1:p.Ser480Cys, NP_001189333.2:p.Ser444Cys

Select item 145169399516.

rs1451693995 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:126595172 (GRCh38)
5:125930864 (GRCh37)
Canonical SPDI:: NC_000005.10:126595171:A:G
Gene:: ALDH7A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.126595172A>G, NC_000005.9:g.125930864A>G, NG_008600.3:g.5219T>C, NM_001182.5:c.27T>C, NM_001182.4:c.27T>C, NM_001201377.2:c.-58T>C, NM_001201377.1:c.-58T>C, NM_001202404.2:c.27T>C, NM_001202404.1:c.27T>C

Select item 145075344317.

rs1450753443 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTCT [Show Flanks]
Chromosome:: 5:126552054 (GRCh38)
5:125887747 (GRCh37)
Canonical SPDI:: NC_000005.10:126552054::TTTTCT
Gene:: ALDH7A1 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TTTTCT=0./0 (ALFA)
TTTTCT=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.126552054_126552055insTTTTCT, NC_000005.9:g.125887746_125887747insTTTTCT, NG_008600.3:g.48336_48337insAGAAAA, NM_001182.5:c.1283_1284insAGAAAA, NM_001182.4:c.1283_1284insAGAAAA, NM_001201377.2:c.1199_1200insAGAAAA, NM_001201377.1:c.1199_1200insAGAAAA, NM_001202404.2:c.1091_1092insAGAAAA, NM_001202404.1:c.1091_1092insAGAAAA, NP_001173.2:p.Phe429_Ala430insGluAsn, NP_001188306.1:p.Phe401_Ala402insGluAsn, NP_001189333.2:p.Phe365_Ala366insGluAsn

Select item 145037536518.

rs1450375365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:126568318 (GRCh38)
5:125904010 (GRCh37)
Canonical SPDI:: NC_000005.10:126568317:G:C
Gene:: ALDH7A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.126568318G>C, NC_000005.9:g.125904010G>C, NG_008600.3:g.32073C>G, NM_001182.5:c.812C>G, NM_001182.4:c.812C>G, NM_001201377.2:c.728C>G, NM_001201377.1:c.728C>G, NM_001202404.2:c.812C>G, NM_001202404.1:c.812C>G, NP_001173.2:p.Ser271Cys, NP_001188306.1:p.Ser243Cys, NP_001189333.2:p.Ser271Cys

Select item 144936207319.

rs1449362073 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:126583998 (GRCh38)
5:125919690 (GRCh37)
Canonical SPDI:: NC_000005.10:126583997:T:C
Gene:: ALDH7A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.126583998T>C, NC_000005.9:g.125919690T>C, NG_008600.3:g.16393A>G, NM_001182.5:c.327A>G, NM_001182.4:c.327A>G, NM_001201377.2:c.243A>G, NM_001201377.1:c.243A>G, NM_001202404.2:c.327A>G, NM_001202404.1:c.327A>G

Select item 144499729320.

rs1444997293 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:126595113 (GRCh38)
5:125930805 (GRCh37)
Canonical SPDI:: NC_000005.10:126595112:A:G
Gene:: ALDH7A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,initiator_codon_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.126595113A>G, NC_000005.9:g.125930805A>G, NG_008600.3:g.5278T>C, NM_001182.5:c.86T>C, NM_001182.4:c.86T>C, NM_001201377.2:c.2T>C, NM_001201377.1:c.2T>C, NM_001202404.2:c.86T>C, NM_001202404.1:c.86T>C, NP_001173.2:p.Met29Thr, NP_001188306.1:p.Met1Thr, NP_001189333.2:p.Met29Thr

<< First< Prev

Page of 25

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 495

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity