Canonical Allele Identifier: CA444399459
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs1748248061
MyVariant Identifiers: chr5:g.56178183G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56882356G>A , CM000667.2:g.56882356G>A GRCh38
NC_000005.9:g.56178183G>A , CM000667.1:g.56178183G>A GRCh37
NC_000005.8:g.56213940G>A NCBI36
NG_031884.1:g.72284G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.3156G>A MANE Select ENSP00000382423.3:p.Leu1052=
ENST00000399503.3:c.3156G>A ENSP00000382423.3:p.Leu1052=
NM_005921.1:c.3156G>A NP_005912.1:p.Leu1052=
XM_005248519.3:c.2778G>A XP_005248576.2:p.Leu926=
XM_011543406.1:c.2901G>A XP_011541708.1:p.Leu967=
XM_011543407.1:c.2877G>A XP_011541709.1:p.Leu959=
XM_011543408.1:c.3156G>A XP_011541710.1:p.Leu1052=
XM_017009484.1:c.2745G>A XP_016864973.1:p.Leu915=
XM_017009485.1:c.2667G>A XP_016864974.1:p.Leu889=
XR_001742068.2:n.3187G>A
NM_005921.2:c.3156G>A MANE Select NP_005912.1:p.Leu1052=