Canonical Allele Identifier: CA359785752

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56177444A>T (hg19) ; chr5:g.56881617A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881617A>T , CM000667.2:g.56881617A>T	GRCh38
NC_000005.9:g.56177444A>T , CM000667.1:g.56177444A>T	GRCh37
NC_000005.8:g.56213201A>T	NCBI36
NG_031884.1:g.71545A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.2417A>T MANE Select	ENSP00000382423.3:p.Asp806Val
ENST00000399503.3:c.2417A>T	ENSP00000382423.3:p.Asp806Val
NM_005921.1:c.2417A>T	NP_005912.1:p.Asp806Val
XM_005248519.3:c.2039A>T	XP_005248576.2:p.Asp680Val
XM_011543406.1:c.2162A>T	XP_011541708.1:p.Asp721Val
XM_011543407.1:c.2138A>T	XP_011541709.1:p.Asp713Val
XM_011543408.1:c.2417A>T	XP_011541710.1:p.Asp806Val
XM_017009484.1:c.2006A>T	XP_016864973.1:p.Asp669Val
XM_017009485.1:c.1928A>T	XP_016864974.1:p.Asp643Val
XR_001742068.2:n.2448A>T
NM_005921.2:c.2417A>T MANE Select	NP_005912.1:p.Asp806Val