Canonical Allele Identifier: CA359787597

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1484587876
• gnomAD v2: 5-56178102-T-A
• gnomAD v4: 5-56882275-T-A
• MyVariant Identifiers: chr5:g.56178102T>A (hg19) ; chr5:g.56882275T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882275T>A , CM000667.2:g.56882275T>A	GRCh38
NC_000005.9:g.56178102T>A , CM000667.1:g.56178102T>A	GRCh37
NC_000005.8:g.56213859T>A	NCBI36
NG_031884.1:g.72203T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3075T>A MANE Select	ENSP00000382423.3:p.Phe1025Leu
ENST00000399503.3:c.3075T>A	ENSP00000382423.3:p.Phe1025Leu
NM_005921.1:c.3075T>A	NP_005912.1:p.Phe1025Leu
XM_005248519.3:c.2697T>A	XP_005248576.2:p.Phe899Leu
XM_011543406.1:c.2820T>A	XP_011541708.1:p.Phe940Leu
XM_011543407.1:c.2796T>A	XP_011541709.1:p.Phe932Leu
XM_011543408.1:c.3075T>A	XP_011541710.1:p.Phe1025Leu
XM_017009484.1:c.2664T>A	XP_016864973.1:p.Phe888Leu
XM_017009485.1:c.2586T>A	XP_016864974.1:p.Phe862Leu
XR_001742068.2:n.3106T>A
NM_005921.2:c.3075T>A MANE Select	NP_005912.1:p.Phe1025Leu