Canonical Allele Identifier: CA359786632

Gene: MAP3K1

Linked Data

• gnomAD v3: 5-56881987-G-C
• gnomAD v4: 5-56881987-G-C
• MyVariant Identifiers: chr5:g.56177814G>C (hg19) ; chr5:g.56881987G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881987G>C , CM000667.2:g.56881987G>C	GRCh38
NC_000005.9:g.56177814G>C , CM000667.1:g.56177814G>C	GRCh37
NC_000005.8:g.56213571G>C	NCBI36
NG_031884.1:g.71915G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2787G>C MANE Select	ENSP00000382423.3:p.Glu929Asp
ENST00000399503.3:c.2787G>C	ENSP00000382423.3:p.Glu929Asp
NM_005921.1:c.2787G>C	NP_005912.1:p.Glu929Asp
XM_005248519.3:c.2409G>C	XP_005248576.2:p.Glu803Asp
XM_011543406.1:c.2532G>C	XP_011541708.1:p.Glu844Asp
XM_011543407.1:c.2508G>C	XP_011541709.1:p.Glu836Asp
XM_011543408.1:c.2787G>C	XP_011541710.1:p.Glu929Asp
XM_017009484.1:c.2376G>C	XP_016864973.1:p.Glu792Asp
XM_017009485.1:c.2298G>C	XP_016864974.1:p.Glu766Asp
XR_001742068.2:n.2818G>C
NM_005921.2:c.2787G>C MANE Select	NP_005912.1:p.Glu929Asp