Canonical Allele Identifier: CA1002570290

Gene: JAK1 RAVER2

Linked Data

• dbSNP Id: rs1654239696
• gnomAD v3: 1-64833262-T-C
• gnomAD v4: 1-64833262-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64833262T>C , CM000663.2:g.64833262T>C	GRCh38
NC_000001.10:g.65298945T>C , CM000663.1:g.65298945T>C	GRCh37
NC_000001.9:g.65071533T>C	NCBI36
NG_023402.1:g.138243A>G
NG_023402.2:g.239485A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465376.7:n.3105A>G (JAK1)
ENST00000671746.2:c.*4673A>G (JAK1)	ENSP00000500065.1:n.*4673A>G
ENST00000671929.2:c.*1300A>G (JAK1)	ENSP00000500485.1:n.*1300A>G
ENST00000671954.2:c.*1300A>G (JAK1)	ENSP00000500841.1:n.*1300A>G
ENST00000672179.2:c.*1300A>G (JAK1)	ENSP00000500296.1:n.*1300A>G
ENST00000672247.2:c.*1300A>G (JAK1)	ENSP00000499884.1:n.*1300A>G
ENST00000672434.2:c.*1300A>G (JAK1)	ENSP00000499900.1:n.*1300A>G
ENST00000672574.2:c.*1300A>G (JAK1)	ENSP00000500714.2:n.*1300A>G
ENST00000672751.2:c.*1300A>G (JAK1)	ENSP00000500745.2:n.*1300A>G
ENST00000673246.2:c.*1300A>G (JAK1)	ENSP00000499942.2:n.*1300A>G
ENST00000673314.2:n.6064A>G (JAK1)
ENST00000673502.2:n.6224A>G (JAK1)
ENST00000699259.1:c.*1300A>G (JAK1)	ENSP00000514240.1:n.*1300A>G
ENST00000699260.1:c.*1300A>G (JAK1)	ENSP00000514241.1:n.*1300A>G
ENST00000699261.1:c.*2139A>G (JAK1)	ENSP00000514242.1:n.*2139A>G
ENST00000699310.1:c.*1300A>G (JAK1)	ENSP00000514289.1:n.*1300A>G
ENST00000699311.1:c.*3425A>G (JAK1)	ENSP00000514290.1:n.*3425A>G
ENST00000699312.1:c.*1300A>G (JAK1)	ENSP00000514291.1:n.*1300A>G
ENST00000699313.1:c.*3274A>G (JAK1)	ENSP00000514292.1:n.*3274A>G
ENST00000342505.5:c.*1300A>G (JAK1) MANE Select	ENSP00000343204.4:n.*1300A>G
ENST00000671746.1:c.*4673A>G (JAK1)	ENSP00000500065.1:n.*4673A>G
ENST00000672247.1:c.*1300A>G (JAK1)	ENSP00000499884.1:n.*1300A>G
ENST00000672434.1:c.*1300A>G (JAK1)	ENSP00000499900.1:n.*1300A>G
ENST00000672574.1:c.2706A>G (JAK1)
ENST00000673046.1:c.*1300A>G (JAK1)	ENSP00000500878.1:n.*1300A>G
ENST00000673246.1:c.4280A>G (JAK1)
ENST00000673254.1:c.*1300A>G (JAK1)	ENSP00000500476.1:n.*1300A>G
ENST00000673314.1:n.5861A>G (JAK1)
ENST00000342505.4:c.*1300A>G (JAK1)	ENSP00000343204.4:n.*1300A>G
NM_002227.2:c.*1300A>G (JAK1)	NP_002218.2:n.*1300A>G
XM_005270841.1:c.*1300A>G (JAK1)	XP_005270898.1:n.*1300A>G
XM_006710624.1:c.*1300A>G (JAK1)	XP_006710687.1:n.*1300A>G
XM_011541395.1:c.*1300A>G (JAK1)	XP_011539697.1:n.*1300A>G
NM_001320923.1:c.*1300A>G (JAK1)	NP_001307852.1:n.*1300A>G
NM_001321852.1:c.*1300A>G (JAK1)	NP_001308781.1:n.*1300A>G
NM_001321853.1:c.*1300A>G (JAK1)	NP_001308782.1:n.*1300A>G
NM_001321854.1:c.*1300A>G (JAK1)	NP_001308783.1:n.*1300A>G
NM_001321855.1:c.*1300A>G (JAK1)	NP_001308784.1:n.*1300A>G
NM_001321856.1:c.*1300A>G (JAK1)	NP_001308785.1:n.*1300A>G
NM_001321857.1:c.*1300A>G (JAK1)	NP_001308786.1:n.*1300A>G
NM_002227.3:c.*1300A>G (JAK1)	NP_002218.2:n.*1300A>G
XR_946693.3:n.4696T>C (RAVER2)
NM_002227.4:c.*1300A>G (JAK1) MANE Select	NP_002218.2:n.*1300A>G
NM_001321852.2:c.*1300A>G (JAK1)	NP_001308781.1:n.*1300A>G
NM_001321853.2:c.*1300A>G (JAK1)	NP_001308782.1:n.*1300A>G
NM_001321854.2:c.*1300A>G (JAK1)	NP_001308783.1:n.*1300A>G
NM_001321855.2:c.*1300A>G (JAK1)	NP_001308784.1:n.*1300A>G
NM_001321857.2:c.*1300A>G (JAK1)	NP_001308786.1:n.*1300A>G
NM_001320923.2:c.*1300A>G (JAK1)	NP_001307852.1:n.*1300A>G
NM_001321856.2:c.*1300A>G (JAK1)	NP_001308785.1:n.*1300A>G