Canonical Allele Identifier: CA128976

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 30147
• ClinVar RCV Id: RCV000023058
• dbSNP Id: rs387906788
• MyVariant Identifiers: chr5:g.56152510T>G (hg19) ; chr5:g.56856683T>G (hg38)
• PubMed: PMID:21129722

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56856683T>G , CM000667.2:g.56856683T>G	GRCh38
NC_000005.9:g.56152510T>G , CM000667.1:g.56152510T>G	GRCh37
NC_000005.8:g.56188267T>G	NCBI36
NG_031884.1:g.46611T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.566T>G MANE Select	ENSP00000382423.3:p.Leu189Arg
ENST00000399503.3:c.566T>G	ENSP00000382423.3:p.Leu189Arg
NM_005921.1:c.566T>G	NP_005912.1:p.Leu189Arg
XM_005248519.3:c.188T>G	XP_005248576.2:p.Leu63Arg
XM_011543406.1:c.311T>G	XP_011541708.1:p.Leu104Arg
XM_011543407.1:c.566T>G	XP_011541709.1:p.Leu189Arg
XM_011543408.1:c.566T>G	XP_011541710.1:p.Leu189Arg
XM_017009484.1:c.155T>G	XP_016864973.1:p.Leu52Arg
XM_017009485.1:c.77T>G	XP_016864974.1:p.Leu26Arg
XR_001742068.2:n.597T>G
NM_005921.2:c.566T>G MANE Select	NP_005912.1:p.Leu189Arg