Canonical Allele Identifier: CA444399199

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56881795-T-C
• MyVariant Identifiers: chr5:g.56177622T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881795T>C , CM000667.2:g.56881795T>C	GRCh38
NC_000005.9:g.56177622T>C , CM000667.1:g.56177622T>C	GRCh37
NC_000005.8:g.56213379T>C	NCBI36
NG_031884.1:g.71723T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2595T>C MANE Select	ENSP00000382423.3:p.Ile865=
ENST00000399503.3:c.2595T>C	ENSP00000382423.3:p.Ile865=
NM_005921.1:c.2595T>C	NP_005912.1:p.Ile865=
XM_005248519.3:c.2217T>C	XP_005248576.2:p.Ile739=
XM_011543406.1:c.2340T>C	XP_011541708.1:p.Ile780=
XM_011543407.1:c.2316T>C	XP_011541709.1:p.Ile772=
XM_011543408.1:c.2595T>C	XP_011541710.1:p.Ile865=
XM_017009484.1:c.2184T>C	XP_016864973.1:p.Ile728=
XM_017009485.1:c.2106T>C	XP_016864974.1:p.Ile702=
XR_001742068.2:n.2626T>C
NM_005921.2:c.2595T>C MANE Select	NP_005912.1:p.Ile865=