Canonical Allele Identifier: CA359785821

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56177477G>T (hg19) ; chr5:g.56881650G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881650G>T , CM000667.2:g.56881650G>T	GRCh38
NC_000005.9:g.56177477G>T , CM000667.1:g.56177477G>T	GRCh37
NC_000005.8:g.56213234G>T	NCBI36
NG_031884.1:g.71578G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2450G>T MANE Select	ENSP00000382423.3:p.Arg817Ile
ENST00000399503.3:c.2450G>T	ENSP00000382423.3:p.Arg817Ile
NM_005921.1:c.2450G>T	NP_005912.1:p.Arg817Ile
XM_005248519.3:c.2072G>T	XP_005248576.2:p.Arg691Ile
XM_011543406.1:c.2195G>T	XP_011541708.1:p.Arg732Ile
XM_011543407.1:c.2171G>T	XP_011541709.1:p.Arg724Ile
XM_011543408.1:c.2450G>T	XP_011541710.1:p.Arg817Ile
XM_017009484.1:c.2039G>T	XP_016864973.1:p.Arg680Ile
XM_017009485.1:c.1961G>T	XP_016864974.1:p.Arg654Ile
XR_001742068.2:n.2481G>T
NM_005921.2:c.2450G>T MANE Select	NP_005912.1:p.Arg817Ile