Canonical Allele Identifier: CA359781437

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56171121T>A (hg19) ; chr5:g.56875294T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875294T>A , CM000667.2:g.56875294T>A	GRCh38
NC_000005.9:g.56171121T>A , CM000667.1:g.56171121T>A	GRCh37
NC_000005.8:g.56206878T>A	NCBI36
NG_031884.1:g.65222T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1949T>A MANE Select	ENSP00000382423.3:p.Val650Glu
ENST00000399503.3:c.1949T>A	ENSP00000382423.3:p.Val650Glu
NM_005921.1:c.1949T>A	NP_005912.1:p.Val650Glu
XM_005248519.3:c.1571T>A	XP_005248576.2:p.Val524Glu
XM_011543406.1:c.1694T>A	XP_011541708.1:p.Val565Glu
XM_011543407.1:c.1686+2289T>A	XP_011541709.1:n.1686+2289T>A
XM_011543408.1:c.1949T>A	XP_011541710.1:p.Val650Glu
XM_017009484.1:c.1538T>A	XP_016864973.1:p.Val513Glu
XM_017009485.1:c.1460T>A	XP_016864974.1:p.Val487Glu
XR_001742068.2:n.1980T>A
NM_005921.2:c.1949T>A MANE Select	NP_005912.1:p.Val650Glu