Canonical Allele Identifier: CA15121475
Gene: JAK1 HGNC NCBI

Linked Data

dbSNP Id: rs11208534
gnomAD v2: 1-65343066-A-G
gnomAD v3: 1-64877383-A-G
gnomAD v4: 1-64877383-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64877383A>G , CM000663.2:g.64877383A>G GRCh38
NC_000001.10:g.65343066A>G , CM000663.1:g.65343066A>G GRCh37
NC_000001.9:g.65115654A>G NCBI36
NG_023402.1:g.94122T>C
NG_023402.2:g.195364T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000671746.2:c.*237+1642T>C ENSP00000500065.1:n.*237+1642T>C
ENST00000671929.2:c.329+1642T>C ENSP00000500485.1:n.329+1642T>C
ENST00000671954.2:c.329+1642T>C ENSP00000500841.1:n.329+1642T>C
ENST00000672179.2:c.329+1642T>C ENSP00000500296.1:n.329+1642T>C
ENST00000672247.2:c.329+1642T>C ENSP00000499884.1:n.329+1642T>C
ENST00000672434.2:c.329+1642T>C ENSP00000499900.1:n.329+1642T>C
ENST00000672574.2:c.329+1642T>C ENSP00000500714.2:n.329+1642T>C
ENST00000672751.2:c.329+1642T>C ENSP00000500745.2:n.329+1642T>C
ENST00000673246.2:c.329+1642T>C ENSP00000499942.2:n.329+1642T>C
ENST00000673314.2:n.638+1642T>C
ENST00000673502.2:n.780+1642T>C
ENST00000699259.1:c.329+1642T>C ENSP00000514240.1:n.329+1642T>C
ENST00000699260.1:c.329+1642T>C ENSP00000514241.1:n.329+1642T>C
ENST00000699261.1:c.329+1642T>C ENSP00000514242.1:n.329+1642T>C
ENST00000699262.1:c.329+1642T>C ENSP00000514243.1:n.329+1642T>C
ENST00000699263.1:c.329+1642T>C ENSP00000514244.1:n.329+1642T>C
ENST00000699310.1:c.329+1642T>C ENSP00000514289.1:n.329+1642T>C
ENST00000699311.1:c.329+1642T>C ENSP00000514290.1:n.329+1642T>C
ENST00000699312.1:c.329+1642T>C ENSP00000514291.1:n.329+1642T>C
ENST00000699313.1:c.329+1642T>C ENSP00000514292.1:n.329+1642T>C
ENST00000699314.1:c.329+1642T>C ENSP00000514294.1:n.329+1642T>C
ENST00000342505.5:c.329+1642T>C MANE Select ENSP00000343204.4:n.329+1642T>C
ENST00000671746.1:c.*237+1642T>C ENSP00000500065.1:n.*237+1642T>C
ENST00000671929.1:c.329+1642T>C ENSP00000500485.1:n.329+1642T>C
ENST00000671954.1:c.329+1642T>C ENSP00000500841.1:n.329+1642T>C
ENST00000672099.1:c.329+1642T>C ENSP00000500328.1:n.329+1642T>C
ENST00000672179.1:c.329+1642T>C ENSP00000500296.1:n.329+1642T>C
ENST00000672247.1:c.329+1642T>C ENSP00000499884.1:n.329+1642T>C
ENST00000672434.1:c.329+1642T>C ENSP00000499900.1:n.329+1642T>C
ENST00000672751.1:c.329+1642T>C ENSP00000500745.1:n.329+1642T>C
ENST00000673046.1:c.329+1642T>C ENSP00000500878.1:n.329+1642T>C
ENST00000673220.1:c.330-910T>C ENSP00000500422.1:n.330-910T>C
ENST00000673254.1:c.329+1642T>C ENSP00000500476.1:n.329+1642T>C
ENST00000673314.1:n.435+1642T>C
ENST00000673502.1:c.329+1642T>C ENSP00000500011.1:n.329+1642T>C
ENST00000342505.4:c.329+1642T>C ENSP00000343204.4:n.329+1642T>C
ENST00000467764.1:n.40-910T>C
NM_002227.2:c.329+1642T>C NP_002218.2:n.329+1642T>C
XM_005270841.1:c.329+1642T>C XP_005270898.1:n.329+1642T>C
XM_006710624.1:c.329+1642T>C XP_006710687.1:n.329+1642T>C
XM_011541395.1:c.329+1642T>C XP_011539697.1:n.329+1642T>C
NM_001320923.1:c.329+1642T>C NP_001307852.1:n.329+1642T>C
NM_001321852.1:c.329+1642T>C NP_001308781.1:n.329+1642T>C
NM_001321853.1:c.329+1642T>C NP_001308782.1:n.329+1642T>C
NM_001321854.1:c.329+1642T>C NP_001308783.1:n.329+1642T>C
NM_001321855.1:c.329+1642T>C NP_001308784.1:n.329+1642T>C
NM_001321856.1:c.329+1642T>C NP_001308785.1:n.329+1642T>C
NM_001321857.1:c.329+1642T>C NP_001308786.1:n.329+1642T>C
NM_002227.3:c.329+1642T>C NP_002218.2:n.329+1642T>C
NM_002227.4:c.329+1642T>C MANE Select NP_002218.2:n.329+1642T>C
NM_001321852.2:c.329+1642T>C NP_001308781.1:n.329+1642T>C
NM_001321853.2:c.329+1642T>C NP_001308782.1:n.329+1642T>C
NM_001321854.2:c.329+1642T>C NP_001308783.1:n.329+1642T>C
NM_001321855.2:c.329+1642T>C NP_001308784.1:n.329+1642T>C
NM_001321857.2:c.329+1642T>C NP_001308786.1:n.329+1642T>C
NM_001320923.2:c.329+1642T>C NP_001307852.1:n.329+1642T>C
NM_001321856.2:c.329+1642T>C NP_001308785.1:n.329+1642T>C