Canonical Allele Identifier: CA340667333
Community Standard Title: NM_002227.4(JAK1):c.2108G>T (p.Ser703Ile)
Gene: JAK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64845520C>A , CM000663.2:g.64845520C>A GRCh38
NC_000001.10:g.65311203C>A , CM000663.1:g.65311203C>A GRCh37
NC_000001.9:g.65083791C>A NCBI36
NG_023402.1:g.125985G>T
NG_023402.2:g.227227G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002227.4:c.2108G>T MANE Select NP_002218.2:p.Ser703Ile
ENST00000342505.5:c.2108G>T MANE Select ENSP00000343204.4:p.Ser703Ile
NM_001320923.1:c.2108G>T NP_001307852.1:p.Ser703Ile
NM_001320923.2:c.2108G>T NP_001307852.1:p.Ser703Ile
NM_001321852.1:c.2108G>T NP_001308781.1:p.Ser703Ile
NM_001321852.2:c.2108G>T NP_001308781.1:p.Ser703Ile
NM_001321853.1:c.2108G>T NP_001308782.1:p.Ser703Ile
NM_001321853.2:c.2108G>T NP_001308782.1:p.Ser703Ile
NM_001321854.1:c.2108G>T NP_001308783.1:p.Ser703Ile
NM_001321854.2:c.2108G>T NP_001308783.1:p.Ser703Ile
NM_001321855.1:c.2108G>T NP_001308784.1:p.Ser703Ile
NM_001321855.2:c.2108G>T NP_001308784.1:p.Ser703Ile
NM_001321856.1:c.2108G>T NP_001308785.1:p.Ser703Ile
NM_001321856.2:c.2108G>T NP_001308785.1:p.Ser703Ile
NM_001321857.1:c.2105G>T NP_001308786.1:p.Ser702Ile
NM_001321857.2:c.2105G>T NP_001308786.1:p.Ser702Ile
NM_002227.2:c.2108G>T NP_002218.2:p.Ser703Ile
NM_002227.3:c.2108G>T NP_002218.2:p.Ser703Ile
ENST00000342505.4:c.2108G>T ENSP00000343204.4:p.Ser703Ile
ENST00000465376.5:n.391G>T
ENST00000465376.6:n.409G>T
ENST00000465376.7:n.448G>T
ENST00000471473.1:n.382G>T
ENST00000671746.1:c.*2016G>T ENSP00000500065.1:n.*2016G>T
ENST00000671746.2:c.*2016G>T ENSP00000500065.1:n.*2016G>T
ENST00000671929.1:c.2108G>T ENSP00000500485.1:p.Ser703Ile
ENST00000671929.2:c.2108G>T ENSP00000500485.1:p.Ser703Ile
ENST00000671954.1:c.2108G>T ENSP00000500841.1:p.Ser703Ile
ENST00000671954.2:c.2108G>T ENSP00000500841.1:p.Ser703Ile
ENST00000672179.1:c.2108G>T ENSP00000500296.1:p.Ser703Ile
ENST00000672179.2:c.2108G>T ENSP00000500296.1:p.Ser703Ile
ENST00000672247.1:c.2108G>T ENSP00000499884.1:p.Ser703Ile
ENST00000672247.2:c.2108G>T ENSP00000499884.1:p.Ser703Ile
ENST00000672434.1:c.2108G>T ENSP00000499900.1:p.Ser703Ile
ENST00000672434.2:c.2108G>T ENSP00000499900.1:p.Ser703Ile
ENST00000672574.1:c.154G>T
ENST00000672574.2:c.2108G>T ENSP00000500714.2:p.Ser703Ile
ENST00000672751.2:c.2108G>T ENSP00000500745.2:p.Ser703Ile
ENST00000673046.1:c.2108G>T ENSP00000500878.1:p.Ser703Ile
ENST00000673220.1:c.*4668G>T ENSP00000500422.1:n.*4668G>T
ENST00000673246.1:c.1623G>T
ENST00000673246.2:c.1979G>T ENSP00000499942.2:p.Ser660Ile
ENST00000673254.1:c.1976G>T ENSP00000500476.1:p.Ser659Ile
ENST00000673314.1:n.3204G>T
ENST00000673314.2:n.3407G>T
ENST00000673502.2:n.3567G>T
ENST00000699259.1:c.2105G>T ENSP00000514240.1:p.Ser702Ile
ENST00000699260.1:c.2105G>T ENSP00000514241.1:p.Ser702Ile
ENST00000699261.1:c.2105G>T ENSP00000514242.1:p.Ser702Ile
ENST00000699262.1:c.2108G>T ENSP00000514243.1:p.Ser703Ile
ENST00000699310.1:c.2102G>T ENSP00000514289.1:p.Ser701Ile
ENST00000699311.1:c.*768G>T ENSP00000514290.1:n.*768G>T
ENST00000699312.1:c.2108G>T ENSP00000514291.1:p.Ser703Ile
ENST00000699313.1:c.*768G>T ENSP00000514292.1:n.*768G>T
XM_005270841.1:c.2108G>T XP_005270898.1:p.Ser703Ile
XM_006710624.1:c.2108G>T XP_006710687.1:p.Ser703Ile
XM_011541395.1:c.2105G>T XP_011539697.1:p.Ser702Ile