Canonical Allele Identifier: CA444391750

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 1982528
• ClinVar RCV Id: RCV002766790
• dbSNP Id: rs1382596856
• gnomAD v2: 5-56155694-G-T
• gnomAD v4: 5-56859867-G-T
• MyVariant Identifiers: chr5:g.56155694G>T (hg19) ; chr5:g.56859867G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859867G>T , CM000667.2:g.56859867G>T	GRCh38
NC_000005.9:g.56155694G>T , CM000667.1:g.56155694G>T	GRCh37
NC_000005.8:g.56191451G>T	NCBI36
NG_031884.1:g.49795G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.786G>T MANE Select	ENSP00000382423.3:p.Val262=
ENST00000399503.3:c.786G>T	ENSP00000382423.3:p.Val262=
NM_005921.1:c.786G>T	NP_005912.1:p.Val262=
XM_005248519.3:c.408G>T	XP_005248576.2:p.Val136=
XM_011543406.1:c.531G>T	XP_011541708.1:p.Val177=
XM_011543407.1:c.786G>T	XP_011541709.1:p.Val262=
XM_011543408.1:c.786G>T	XP_011541710.1:p.Val262=
XM_017009484.1:c.375G>T	XP_016864973.1:p.Val125=
XM_017009485.1:c.297G>T	XP_016864974.1:p.Val99=
XR_001742068.2:n.817G>T
NM_005921.2:c.786G>T MANE Select	NP_005912.1:p.Val262=