Canonical Allele Identifier: CA444391044
Community Standard Title: NM_005921.2(MAP3K1):c.633G>A (p.Val211=)
Gene: MAP3K1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56856750G>A , CM000667.2:g.56856750G>A GRCh38
NC_000005.9:g.56152577G>A , CM000667.1:g.56152577G>A GRCh37
NC_000005.8:g.56188334G>A NCBI36
NG_031884.1:g.46678G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005921.2:c.633G>A MANE Select NP_005912.1:p.Val211=
ENST00000399503.4:c.633G>A MANE Select ENSP00000382423.3:p.Val211=
NM_005921.1:c.633G>A NP_005912.1:p.Val211=
ENST00000399503.3:c.633G>A ENSP00000382423.3:p.Val211=
XM_005248519.3:c.255G>A XP_005248576.2:p.Val85=
XM_011543406.1:c.378G>A XP_011541708.1:p.Val126=
XM_011543407.1:c.633G>A XP_011541709.1:p.Val211=
XM_011543408.1:c.633G>A XP_011541710.1:p.Val211=
XM_017009484.1:c.222G>A XP_016864973.1:p.Val74=
XM_017009485.1:c.144G>A XP_016864974.1:p.Val48=
XR_001742068.2:n.664G>A