Canonical Allele Identifier: CA3273136

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 2778164
• ClinVar RCV Id: RCV003641126
• dbSNP Id: rs748409131
• ExAC: 5:56178239 G / T
• gnomAD v2: 5-56178239-G-T
• gnomAD v4: 5-56882412-G-T
• MyVariant Identifiers: chr5:g.56178239G>T (hg19) ; chr5:g.56882412G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882412G>T , CM000667.2:g.56882412G>T	GRCh38
NC_000005.9:g.56178239G>T , CM000667.1:g.56178239G>T	GRCh37
NC_000005.8:g.56213996G>T	NCBI36
NG_031884.1:g.72340G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3212G>T MANE Select	ENSP00000382423.3:p.Ser1071Ile
ENST00000399503.3:c.3212G>T	ENSP00000382423.3:p.Ser1071Ile
NM_005921.1:c.3212G>T	NP_005912.1:p.Ser1071Ile
XM_005248519.3:c.2834G>T	XP_005248576.2:p.Ser945Ile
XM_011543406.1:c.2957G>T	XP_011541708.1:p.Ser986Ile
XM_011543407.1:c.2933G>T	XP_011541709.1:p.Ser978Ile
XM_011543408.1:c.3212G>T	XP_011541710.1:p.Ser1071Ile
XM_017009484.1:c.2801G>T	XP_016864973.1:p.Ser934Ile
XM_017009485.1:c.2723G>T	XP_016864974.1:p.Ser908Ile
XR_001742068.2:n.3243G>T
NM_005921.2:c.3212G>T MANE Select	NP_005912.1:p.Ser1071Ile