Canonical Allele Identifier: CA359802338

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1209264588
• gnomAD v3: 5-56859728-T-A
• gnomAD v4: 5-56859728-T-A
• COSMIC: COSM6193042
• MyVariant Identifiers: chr5:g.56155555T>A (hg19) ; chr5:g.56859728T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859728T>A , CM000667.2:g.56859728T>A	GRCh38
NC_000005.9:g.56155555T>A , CM000667.1:g.56155555T>A	GRCh37
NC_000005.8:g.56191312T>A	NCBI36
NG_031884.1:g.49656T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.647T>A MANE Select	ENSP00000382423.3:p.Ile216Asn
ENST00000399503.3:c.647T>A	ENSP00000382423.3:p.Ile216Asn
NM_005921.1:c.647T>A	NP_005912.1:p.Ile216Asn
XM_005248519.3:c.269T>A	XP_005248576.2:p.Ile90Asn
XM_011543406.1:c.392T>A	XP_011541708.1:p.Ile131Asn
XM_011543407.1:c.647T>A	XP_011541709.1:p.Ile216Asn
XM_011543408.1:c.647T>A	XP_011541710.1:p.Ile216Asn
XM_017009484.1:c.236T>A	XP_016864973.1:p.Ile79Asn
XM_017009485.1:c.158T>A	XP_016864974.1:p.Ile53Asn
XR_001742068.2:n.678T>A
NM_005921.2:c.647T>A MANE Select	NP_005912.1:p.Ile216Asn