Canonical Allele Identifier: CA3272588

Gene: MAP3K1

Linked Data

• dbSNP Id: rs376486169
• ExAC: 5:56155601 G / C
• gnomAD v2: 5-56155601-G-C
• MyVariant Identifiers: chr5:g.56155601G>C (hg19) ; chr5:g.56859774G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859774G>C , CM000667.2:g.56859774G>C	GRCh38
NC_000005.9:g.56155601G>C , CM000667.1:g.56155601G>C	GRCh37
NC_000005.8:g.56191358G>C	NCBI36
NG_031884.1:g.49702G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.693G>C MANE Select	ENSP00000382423.3:p.Glu231Asp
ENST00000399503.3:c.693G>C	ENSP00000382423.3:p.Glu231Asp
NM_005921.1:c.693G>C	NP_005912.1:p.Glu231Asp
XM_005248519.3:c.315G>C	XP_005248576.2:p.Glu105Asp
XM_011543406.1:c.438G>C	XP_011541708.1:p.Glu146Asp
XM_011543407.1:c.693G>C	XP_011541709.1:p.Glu231Asp
XM_011543408.1:c.693G>C	XP_011541710.1:p.Glu231Asp
XM_017009484.1:c.282G>C	XP_016864973.1:p.Glu94Asp
XM_017009485.1:c.204G>C	XP_016864974.1:p.Glu68Asp
XR_001742068.2:n.724G>C
NM_005921.2:c.693G>C MANE Select	NP_005912.1:p.Glu231Asp