Canonical Allele Identifier: CA359787762

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1273847896
• gnomAD v4: 5-56882349-G-A
• MyVariant Identifiers: chr5:g.56178176G>A (hg19) ; chr5:g.56882349G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882349G>A , CM000667.2:g.56882349G>A	GRCh38
NC_000005.9:g.56178176G>A , CM000667.1:g.56178176G>A	GRCh37
NC_000005.8:g.56213933G>A	NCBI36
NG_031884.1:g.72277G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3149G>A MANE Select	ENSP00000382423.3:p.Arg1050Lys
ENST00000399503.3:c.3149G>A	ENSP00000382423.3:p.Arg1050Lys
NM_005921.1:c.3149G>A	NP_005912.1:p.Arg1050Lys
XM_005248519.3:c.2771G>A	XP_005248576.2:p.Arg924Lys
XM_011543406.1:c.2894G>A	XP_011541708.1:p.Arg965Lys
XM_011543407.1:c.2870G>A	XP_011541709.1:p.Arg957Lys
XM_011543408.1:c.3149G>A	XP_011541710.1:p.Arg1050Lys
XM_017009484.1:c.2738G>A	XP_016864973.1:p.Arg913Lys
XM_017009485.1:c.2660G>A	XP_016864974.1:p.Arg887Lys
XR_001742068.2:n.3180G>A
NM_005921.2:c.3149G>A MANE Select	NP_005912.1:p.Arg1050Lys