Canonical Allele Identifier: CA359787514

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111944930
• MyVariant Identifiers: chr5:g.56178061T>C (hg19) ; chr5:g.56882234T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882234T>C , CM000667.2:g.56882234T>C	GRCh38
NC_000005.9:g.56178061T>C , CM000667.1:g.56178061T>C	GRCh37
NC_000005.8:g.56213818T>C	NCBI36
NG_031884.1:g.72162T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3034T>C MANE Select	ENSP00000382423.3:p.Cys1012Arg
ENST00000399503.3:c.3034T>C	ENSP00000382423.3:p.Cys1012Arg
NM_005921.1:c.3034T>C	NP_005912.1:p.Cys1012Arg
XM_005248519.3:c.2656T>C	XP_005248576.2:p.Cys886Arg
XM_011543406.1:c.2779T>C	XP_011541708.1:p.Cys927Arg
XM_011543407.1:c.2755T>C	XP_011541709.1:p.Cys919Arg
XM_011543408.1:c.3034T>C	XP_011541710.1:p.Cys1012Arg
XM_017009484.1:c.2623T>C	XP_016864973.1:p.Cys875Arg
XM_017009485.1:c.2545T>C	XP_016864974.1:p.Cys849Arg
XR_001742068.2:n.3065T>C
NM_005921.2:c.3034T>C MANE Select	NP_005912.1:p.Cys1012Arg