Canonical Allele Identifier: CA359787676

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111945696
• gnomAD v4: 5-56882309-A-G
• MyVariant Identifiers: chr5:g.56178136A>G (hg19) ; chr5:g.56882309A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882309A>G , CM000667.2:g.56882309A>G	GRCh38
NC_000005.9:g.56178136A>G , CM000667.1:g.56178136A>G	GRCh37
NC_000005.8:g.56213893A>G	NCBI36
NG_031884.1:g.72237A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3109A>G MANE Select	ENSP00000382423.3:p.Lys1037Glu
ENST00000399503.3:c.3109A>G	ENSP00000382423.3:p.Lys1037Glu
NM_005921.1:c.3109A>G	NP_005912.1:p.Lys1037Glu
XM_005248519.3:c.2731A>G	XP_005248576.2:p.Lys911Glu
XM_011543406.1:c.2854A>G	XP_011541708.1:p.Lys952Glu
XM_011543407.1:c.2830A>G	XP_011541709.1:p.Lys944Glu
XM_011543408.1:c.3109A>G	XP_011541710.1:p.Lys1037Glu
XM_017009484.1:c.2698A>G	XP_016864973.1:p.Lys900Glu
XM_017009485.1:c.2620A>G	XP_016864974.1:p.Lys874Glu
XR_001742068.2:n.3140A>G
NM_005921.2:c.3109A>G MANE Select	NP_005912.1:p.Lys1037Glu