Canonical Allele Identifier: CA359785902

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1304106192
• gnomAD v2: 5-56177513-C-G
• gnomAD v4: 5-56881686-C-G
• MyVariant Identifiers: chr5:g.56177513C>G (hg19) ; chr5:g.56881686C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881686C>G , CM000667.2:g.56881686C>G	GRCh38
NC_000005.9:g.56177513C>G , CM000667.1:g.56177513C>G	GRCh37
NC_000005.8:g.56213270C>G	NCBI36
NG_031884.1:g.71614C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2486C>G MANE Select	ENSP00000382423.3:p.Thr829Arg
ENST00000399503.3:c.2486C>G	ENSP00000382423.3:p.Thr829Arg
NM_005921.1:c.2486C>G	NP_005912.1:p.Thr829Arg
XM_005248519.3:c.2108C>G	XP_005248576.2:p.Thr703Arg
XM_011543406.1:c.2231C>G	XP_011541708.1:p.Thr744Arg
XM_011543407.1:c.2207C>G	XP_011541709.1:p.Thr736Arg
XM_011543408.1:c.2486C>G	XP_011541710.1:p.Thr829Arg
XM_017009484.1:c.2075C>G	XP_016864973.1:p.Thr692Arg
XM_017009485.1:c.1997C>G	XP_016864974.1:p.Thr666Arg
XR_001742068.2:n.2517C>G
NM_005921.2:c.2486C>G MANE Select	NP_005912.1:p.Thr829Arg