Canonical Allele Identifier: CA359802692

Gene: MAP3K1

Linked Data

• dbSNP Id: rs2111874729
• gnomAD v4: 5-56859901-G-A
• MyVariant Identifiers: chr5:g.56155728G>A (hg19) ; chr5:g.56859901G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859901G>A , CM000667.2:g.56859901G>A	GRCh38
NC_000005.9:g.56155728G>A , CM000667.1:g.56155728G>A	GRCh37
NC_000005.8:g.56191485G>A	NCBI36
NG_031884.1:g.49829G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.820G>A MANE Select	ENSP00000382423.3:p.Val274Ile
ENST00000399503.3:c.820G>A	ENSP00000382423.3:p.Val274Ile
NM_005921.1:c.820G>A	NP_005912.1:p.Val274Ile
XM_005248519.3:c.442G>A	XP_005248576.2:p.Val148Ile
XM_011543406.1:c.565G>A	XP_011541708.1:p.Val189Ile
XM_011543407.1:c.820G>A	XP_011541709.1:p.Val274Ile
XM_011543408.1:c.820G>A	XP_011541710.1:p.Val274Ile
XM_017009484.1:c.409G>A	XP_016864973.1:p.Val137Ile
XM_017009485.1:c.331G>A	XP_016864974.1:p.Val111Ile
XR_001742068.2:n.851G>A
NM_005921.2:c.820G>A MANE Select	NP_005912.1:p.Val274Ile