Canonical Allele Identifier: CA16602499

Gene: JAK1

Linked Data

• ClinVar Variation Id: 376030
• ClinVar RCV Id: RCV000419919 ; RCV000429980 ; RCV000430797 ; RCV000440192
• dbSNP Id: rs1057519753
• COSMIC: COSM41757
• MyVariant Identifiers: chr1:g.65312347C>A (hg19) ; chr1:g.64846664C>A (hg38)
• PubMed: PMID:16239216 ; PMID:19139102 ; PMID:19470474 ; PMID:19838194 ; PMID:21436584 ; PMID:21680795

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64846664C>A , CM000663.2:g.64846664C>A	GRCh38
NC_000001.10:g.65312347C>A , CM000663.1:g.65312347C>A	GRCh37
NC_000001.9:g.65084935C>A	NCBI36
NG_023402.1:g.124841G>T
NG_023402.2:g.226083G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000465376.7:n.312G>T
ENST00000671746.2:c.*1880G>T	ENSP00000500065.1:n.*1880G>T
ENST00000671929.2:c.1972G>T	ENSP00000500485.1:p.Val658Phe
ENST00000671954.2:c.1972G>T	ENSP00000500841.1:p.Val658Phe
ENST00000672179.2:c.1972G>T	ENSP00000500296.1:p.Val658Phe
ENST00000672247.2:c.1972G>T	ENSP00000499884.1:p.Val658Phe
ENST00000672434.2:c.1972G>T	ENSP00000499900.1:p.Val658Phe
ENST00000672574.2:c.1972G>T	ENSP00000500714.2:p.Val658Phe
ENST00000672751.2:c.1972G>T	ENSP00000500745.2:p.Val658Phe
ENST00000673246.2:c.1843G>T	ENSP00000499942.2:p.Val615Phe
ENST00000673314.2:n.2263G>T
ENST00000673502.2:n.2423G>T
ENST00000699259.1:c.1969G>T	ENSP00000514240.1:p.Val657Phe
ENST00000699260.1:c.1969G>T	ENSP00000514241.1:p.Val657Phe
ENST00000699261.1:c.1969G>T	ENSP00000514242.1:p.Val657Phe
ENST00000699262.1:c.1972G>T	ENSP00000514243.1:p.Val658Phe
ENST00000699310.1:c.1966G>T	ENSP00000514289.1:p.Val656Phe
ENST00000699311.1:c.*632G>T	ENSP00000514290.1:n.*632G>T
ENST00000699312.1:c.1972G>T	ENSP00000514291.1:p.Val658Phe
ENST00000699313.1:c.*632G>T	ENSP00000514292.1:n.*632G>T
ENST00000342505.5:c.1972G>T MANE Select	ENSP00000343204.4:p.Val658Phe
ENST00000465376.6:n.273G>T
ENST00000671746.1:c.*1880G>T	ENSP00000500065.1:n.*1880G>T
ENST00000671929.1:c.1972G>T	ENSP00000500485.1:p.Val658Phe
ENST00000671954.1:c.1972G>T	ENSP00000500841.1:p.Val658Phe
ENST00000672179.1:c.1972G>T	ENSP00000500296.1:p.Val658Phe
ENST00000672247.1:c.1972G>T	ENSP00000499884.1:p.Val658Phe
ENST00000672434.1:c.1972G>T	ENSP00000499900.1:p.Val658Phe
ENST00000672574.1:c.18G>T
ENST00000673046.1:c.1972G>T	ENSP00000500878.1:p.Val658Phe
ENST00000673220.1:c.*4532G>T	ENSP00000500422.1:n.*4532G>T
ENST00000673246.1:c.1487G>T
ENST00000673254.1:c.1840G>T	ENSP00000500476.1:p.Val614Phe
ENST00000673314.1:n.2060G>T
ENST00000673502.1:c.1972G>T	ENSP00000500011.1:p.Val658Phe
ENST00000342505.4:c.1972G>T	ENSP00000343204.4:p.Val658Phe
ENST00000465376.5:n.255G>T
ENST00000471473.1:n.246G>T
NM_002227.2:c.1972G>T	NP_002218.2:p.Val658Phe
XM_005270841.1:c.1972G>T	XP_005270898.1:p.Val658Phe
XM_006710624.1:c.1972G>T	XP_006710687.1:p.Val658Phe
XM_011541395.1:c.1969G>T	XP_011539697.1:p.Val657Phe
NM_001320923.1:c.1972G>T	NP_001307852.1:p.Val658Phe
NM_001321852.1:c.1972G>T	NP_001308781.1:p.Val658Phe
NM_001321853.1:c.1972G>T	NP_001308782.1:p.Val658Phe
NM_001321854.1:c.1972G>T	NP_001308783.1:p.Val658Phe
NM_001321855.1:c.1972G>T	NP_001308784.1:p.Val658Phe
NM_001321856.1:c.1972G>T	NP_001308785.1:p.Val658Phe
NM_001321857.1:c.1969G>T	NP_001308786.1:p.Val657Phe
NM_002227.3:c.1972G>T	NP_002218.2:p.Val658Phe
NM_002227.4:c.1972G>T MANE Select	NP_002218.2:p.Val658Phe
NM_001321852.2:c.1972G>T	NP_001308781.1:p.Val658Phe
NM_001321853.2:c.1972G>T	NP_001308782.1:p.Val658Phe
NM_001321854.2:c.1972G>T	NP_001308783.1:p.Val658Phe
NM_001321855.2:c.1972G>T	NP_001308784.1:p.Val658Phe
NM_001321857.2:c.1969G>T	NP_001308786.1:p.Val657Phe
NM_001320923.2:c.1972G>T	NP_001307852.1:p.Val658Phe
NM_001321856.2:c.1972G>T	NP_001308785.1:p.Val658Phe