Canonical Allele Identifier: CA359787757

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111946045
• MyVariant Identifiers: chr5:g.56178173C>A (hg19) ; chr5:g.56882346C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882346C>A , CM000667.2:g.56882346C>A	GRCh38
NC_000005.9:g.56178173C>A , CM000667.1:g.56178173C>A	GRCh37
NC_000005.8:g.56213930C>A	NCBI36
NG_031884.1:g.72274C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3146C>A MANE Select	ENSP00000382423.3:p.Ser1049Ter
ENST00000399503.3:c.3146C>A	ENSP00000382423.3:p.Ser1049Ter
NM_005921.1:c.3146C>A	NP_005912.1:p.Ser1049Ter
XM_005248519.3:c.2768C>A	XP_005248576.2:p.Ser923Ter
XM_011543406.1:c.2891C>A	XP_011541708.1:p.Ser964Ter
XM_011543407.1:c.2867C>A	XP_011541709.1:p.Ser956Ter
XM_011543408.1:c.3146C>A	XP_011541710.1:p.Ser1049Ter
XM_017009484.1:c.2735C>A	XP_016864973.1:p.Ser912Ter
XM_017009485.1:c.2657C>A	XP_016864974.1:p.Ser886Ter
XR_001742068.2:n.3177C>A
NM_005921.2:c.3146C>A MANE Select	NP_005912.1:p.Ser1049Ter