Canonical Allele Identifier: CA523700471

Gene: JAK1

Linked Data

• dbSNP Id: rs1212936142
• gnomAD v2: 1-65515561-G-T
• gnomAD v3: 1-65049878-G-T
• gnomAD v4: 1-65049878-G-T
• MyVariant Identifiers: chr1:g.65515561G>T (hg19) ; chr1:g.65049878G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65049878G>T , CM000663.2:g.65049878G>T	GRCh38
NC_000001.10:g.65515561G>T , CM000663.1:g.65515561G>T	GRCh37
NC_000001.9:g.65288149G>T	NCBI36
NG_023402.2:g.22869C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000671954.2:c.-180-5296C>A	ENSP00000500841.1:n.-180-5296C>A
ENST00000672434.2:c.-162+16750C>A	ENSP00000499900.1:n.-162+16750C>A
ENST00000672751.2:c.-78+17726C>A	ENSP00000500745.2:n.-78+17726C>A
ENST00000673502.2:n.374+16243C>A
ENST00000699263.1:c.-387+17726C>A	ENSP00000514244.1:n.-387+17726C>A
ENST00000699312.1:c.-78+16750C>A	ENSP00000514291.1:n.-78+16750C>A
ENST00000699314.1:c.-856+17726C>A	ENSP00000514294.1:n.-856+17726C>A
ENST00000671954.1:c.-180-5296C>A	ENSP00000500841.1:n.-180-5296C>A
ENST00000672099.1:c.-384+17726C>A	ENSP00000500328.1:n.-384+17726C>A
ENST00000672434.1:c.-162+16750C>A	ENSP00000499900.1:n.-162+16750C>A
ENST00000672751.1:c.-78+17726C>A	ENSP00000500745.1:n.-78+17726C>A
ENST00000673502.1:c.-78+16243C>A	ENSP00000500011.1:n.-78+16243C>A
XM_011542510.1:c.231-954C>A	XP_011540812.1:n.231-954C>A
NM_001321852.1:c.-78+17726C>A	NP_001308781.1:n.-78+17726C>A
NM_001321853.1:c.-162+16750C>A	NP_001308782.1:n.-162+16750C>A
NM_001321854.1:c.-78+16750C>A	NP_001308783.1:n.-78+16750C>A
NM_001321852.2:c.-78+17726C>A	NP_001308781.1:n.-78+17726C>A
NM_001321853.2:c.-162+16750C>A	NP_001308782.1:n.-162+16750C>A
NM_001321854.2:c.-78+16750C>A	NP_001308783.1:n.-78+16750C>A