Canonical Allele Identifier: CA119073079

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1034896455
• gnomAD v4: 5-56875093-C-T
• MyVariant Identifiers: chr5:g.56170920C>T (hg19) ; chr5:g.56875093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875093C>T , CM000667.2:g.56875093C>T	GRCh38
NC_000005.9:g.56170920C>T , CM000667.1:g.56170920C>T	GRCh37
NC_000005.8:g.56206677C>T	NCBI36
NG_031884.1:g.65021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1748C>T MANE Select	ENSP00000382423.3:p.Ala583Val
ENST00000399503.3:c.1748C>T	ENSP00000382423.3:p.Ala583Val
NM_005921.1:c.1748C>T	NP_005912.1:p.Ala583Val
XM_005248519.3:c.1370C>T	XP_005248576.2:p.Ala457Val
XM_011543406.1:c.1493C>T	XP_011541708.1:p.Ala498Val
XM_011543407.1:c.1686+2088C>T	XP_011541709.1:n.1686+2088C>T
XM_011543408.1:c.1748C>T	XP_011541710.1:p.Ala583Val
XM_017009484.1:c.1337C>T	XP_016864973.1:p.Ala446Val
XM_017009485.1:c.1259C>T	XP_016864974.1:p.Ala420Val
XR_001742068.2:n.1779C>T
NM_005921.2:c.1748C>T MANE Select	NP_005912.1:p.Ala583Val