Canonical Allele Identifier: CA359787501

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 2252139
• ClinVar RCV Id: RCV002777044
• dbSNP Id: rs1748242230
• gnomAD v4: 5-56882228-A-T
• MyVariant Identifiers: chr5:g.56178055A>T (hg19) ; chr5:g.56882228A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882228A>T , CM000667.2:g.56882228A>T	GRCh38
NC_000005.9:g.56178055A>T , CM000667.1:g.56178055A>T	GRCh37
NC_000005.8:g.56213812A>T	NCBI36
NG_031884.1:g.72156A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3028A>T MANE Select	ENSP00000382423.3:p.Ile1010Phe
ENST00000399503.3:c.3028A>T	ENSP00000382423.3:p.Ile1010Phe
NM_005921.1:c.3028A>T	NP_005912.1:p.Ile1010Phe
XM_005248519.3:c.2650A>T	XP_005248576.2:p.Ile884Phe
XM_011543406.1:c.2773A>T	XP_011541708.1:p.Ile925Phe
XM_011543407.1:c.2749A>T	XP_011541709.1:p.Ile917Phe
XM_011543408.1:c.3028A>T	XP_011541710.1:p.Ile1010Phe
XM_017009484.1:c.2617A>T	XP_016864973.1:p.Ile873Phe
XM_017009485.1:c.2539A>T	XP_016864974.1:p.Ile847Phe
XR_001742068.2:n.3059A>T
NM_005921.2:c.3028A>T MANE Select	NP_005912.1:p.Ile1010Phe