Canonical Allele Identifier: CA1139798606

Gene: JAK1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65049850A= , CM000663.2:g.65049850A=	GRCh38
NC_000001.10:g.65515533A= , CM000663.1:g.65515533A=	GRCh37
NC_000001.9:g.65288121A=	NCBI36
NG_023402.2:g.22897T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001321852.1:c.-78+17754T=	NP_001308781.1:n.-78+17754T=
NM_001321852.2:c.-78+17754T=	NP_001308781.1:n.-78+17754T=
NM_001321853.1:c.-162+16778T=	NP_001308782.1:n.-162+16778T=
NM_001321853.2:c.-162+16778T=	NP_001308782.1:n.-162+16778T=
NM_001321854.1:c.-78+16778T=	NP_001308783.1:n.-78+16778T=
NM_001321854.2:c.-78+16778T=	NP_001308783.1:n.-78+16778T=
ENST00000671954.1:c.-180-5268T=	ENSP00000500841.1:n.-180-5268T=
ENST00000671954.2:c.-180-5268T=	ENSP00000500841.1:n.-180-5268T=
ENST00000672099.1:c.-384+17754T=	ENSP00000500328.1:n.-384+17754T=
ENST00000672434.1:c.-162+16778T=	ENSP00000499900.1:n.-162+16778T=
ENST00000672434.2:c.-162+16778T=	ENSP00000499900.1:n.-162+16778T=
ENST00000672751.1:c.-78+17754T=	ENSP00000500745.1:n.-78+17754T=
ENST00000672751.2:c.-78+17754T=	ENSP00000500745.2:n.-78+17754T=
ENST00000673502.1:c.-78+16271T=	ENSP00000500011.1:n.-78+16271T=
ENST00000673502.2:n.374+16271T=
ENST00000699263.1:c.-387+17754T=	ENSP00000514244.1:n.-387+17754T=
ENST00000699312.1:c.-78+16778T=	ENSP00000514291.1:n.-78+16778T=
ENST00000699314.1:c.-856+17754T=	ENSP00000514294.1:n.-856+17754T=
XM_011542510.1:c.231-926T=	XP_011540812.1:n.231-926T=