Canonical Allele Identifier: CA10727929
Gene: JAK1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64852824C>T , CM000663.2:g.64852824C>T GRCh38
NC_000001.10:g.65318507C>T , CM000663.1:g.65318507C>T GRCh37
NC_000001.9:g.65091095C>T NCBI36
NG_023402.1:g.118681G>A
NG_023402.2:g.219923G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000671746.2:c.*1557-1914G>A ENSP00000500065.1:n.*1557-1914G>A
ENST00000671929.2:c.1649-1914G>A ENSP00000500485.1:n.1649-1914G>A
ENST00000671954.2:c.1649-1914G>A ENSP00000500841.1:n.1649-1914G>A
ENST00000672179.2:c.1649-1914G>A ENSP00000500296.1:n.1649-1914G>A
ENST00000672247.2:c.1649-1914G>A ENSP00000499884.1:n.1649-1914G>A
ENST00000672434.2:c.1649-1914G>A ENSP00000499900.1:n.1649-1914G>A
ENST00000672574.2:c.1649-1914G>A ENSP00000500714.2:n.1649-1914G>A
ENST00000672751.2:c.1649-1914G>A ENSP00000500745.2:n.1649-1914G>A
ENST00000673246.2:c.1520-1914G>A ENSP00000499942.2:n.1520-1914G>A
ENST00000673314.2:n.1940-1914G>A
ENST00000673502.2:n.2100-1914G>A
ENST00000699259.1:c.1646-1914G>A ENSP00000514240.1:n.1646-1914G>A
ENST00000699260.1:c.1646-1914G>A ENSP00000514241.1:n.1646-1914G>A
ENST00000699261.1:c.1646-1914G>A ENSP00000514242.1:n.1646-1914G>A
ENST00000699262.1:c.1649-1914G>A ENSP00000514243.1:n.1649-1914G>A
ENST00000699310.1:c.1643-1914G>A ENSP00000514289.1:n.1643-1914G>A
ENST00000699311.1:c.*309-1914G>A ENSP00000514290.1:n.*309-1914G>A
ENST00000699312.1:c.1649-1914G>A ENSP00000514291.1:n.1649-1914G>A
ENST00000699313.1:c.*309-1914G>A ENSP00000514292.1:n.*309-1914G>A
ENST00000342505.5:c.1649-1914G>A MANE Select ENSP00000343204.4:n.1649-1914G>A
ENST00000671746.1:c.*1557-1914G>A ENSP00000500065.1:n.*1557-1914G>A
ENST00000671929.1:c.1649-1914G>A ENSP00000500485.1:n.1649-1914G>A
ENST00000671954.1:c.1649-1914G>A ENSP00000500841.1:n.1649-1914G>A
ENST00000672179.1:c.1649-1914G>A ENSP00000500296.1:n.1649-1914G>A
ENST00000672247.1:c.1649-1914G>A ENSP00000499884.1:n.1649-1914G>A
ENST00000672434.1:c.1649-1914G>A ENSP00000499900.1:n.1649-1914G>A
ENST00000673046.1:c.1649-1914G>A ENSP00000500878.1:n.1649-1914G>A
ENST00000673220.1:c.*4209-1914G>A ENSP00000500422.1:n.*4209-1914G>A
ENST00000673246.1:c.1164-1914G>A
ENST00000673254.1:c.1517-1914G>A ENSP00000500476.1:n.1517-1914G>A
ENST00000673314.1:n.1737-1914G>A
ENST00000673502.1:c.1649-1914G>A ENSP00000500011.1:n.1649-1914G>A
ENST00000342505.4:c.1649-1914G>A ENSP00000343204.4:n.1649-1914G>A
NM_002227.2:c.1649-1914G>A NP_002218.2:n.1649-1914G>A
XM_005270841.1:c.1649-1914G>A XP_005270898.1:n.1649-1914G>A
XM_006710624.1:c.1649-1914G>A XP_006710687.1:n.1649-1914G>A
XM_011541395.1:c.1646-1914G>A XP_011539697.1:n.1646-1914G>A
NM_001320923.1:c.1649-1914G>A NP_001307852.1:n.1649-1914G>A
NM_001321852.1:c.1649-1914G>A NP_001308781.1:n.1649-1914G>A
NM_001321853.1:c.1649-1914G>A NP_001308782.1:n.1649-1914G>A
NM_001321854.1:c.1649-1914G>A NP_001308783.1:n.1649-1914G>A
NM_001321855.1:c.1649-1914G>A NP_001308784.1:n.1649-1914G>A
NM_001321856.1:c.1649-1914G>A NP_001308785.1:n.1649-1914G>A
NM_001321857.1:c.1646-1914G>A NP_001308786.1:n.1646-1914G>A
NM_002227.3:c.1649-1914G>A NP_002218.2:n.1649-1914G>A
NM_002227.4:c.1649-1914G>A MANE Select NP_002218.2:n.1649-1914G>A
NM_001321852.2:c.1649-1914G>A NP_001308781.1:n.1649-1914G>A
NM_001321853.2:c.1649-1914G>A NP_001308782.1:n.1649-1914G>A
NM_001321854.2:c.1649-1914G>A NP_001308783.1:n.1649-1914G>A
NM_001321855.2:c.1649-1914G>A NP_001308784.1:n.1649-1914G>A
NM_001321857.2:c.1646-1914G>A NP_001308786.1:n.1646-1914G>A
NM_001320923.2:c.1649-1914G>A NP_001307852.1:n.1649-1914G>A
NM_001321856.2:c.1649-1914G>A NP_001308785.1:n.1649-1914G>A
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