Canonical Allele Identifier: CA3273021

Gene: MAP3K1

Linked Data

• dbSNP Id: rs747288100
• ExAC: 5:56177590 C / T
• gnomAD v2: 5-56177590-C-T
• gnomAD v4: 5-56881763-C-T
• COSMIC: COSM1311239
• MyVariant Identifiers: chr5:g.56177590C>T (hg19) ; chr5:g.56881763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881763C>T , CM000667.2:g.56881763C>T	GRCh38
NC_000005.9:g.56177590C>T , CM000667.1:g.56177590C>T	GRCh37
NC_000005.8:g.56213347C>T	NCBI36
NG_031884.1:g.71691C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2563C>T MANE Select	ENSP00000382423.3:p.Arg855Cys
ENST00000399503.3:c.2563C>T	ENSP00000382423.3:p.Arg855Cys
NM_005921.1:c.2563C>T	NP_005912.1:p.Arg855Cys
XM_005248519.3:c.2185C>T	XP_005248576.2:p.Arg729Cys
XM_011543406.1:c.2308C>T	XP_011541708.1:p.Arg770Cys
XM_011543407.1:c.2284C>T	XP_011541709.1:p.Arg762Cys
XM_011543408.1:c.2563C>T	XP_011541710.1:p.Arg855Cys
XM_017009484.1:c.2152C>T	XP_016864973.1:p.Arg718Cys
XM_017009485.1:c.2074C>T	XP_016864974.1:p.Arg692Cys
XR_001742068.2:n.2594C>T
NM_005921.2:c.2563C>T MANE Select	NP_005912.1:p.Arg855Cys