Canonical Allele Identifier: CA572213

Gene: ENO1

Linked Data

• ClinVar Variation Id: 2510847
• ClinVar RCV Id: RCV004286409
• dbSNP Id: rs369746357
• ExAC: 1:8921454 C / G
• gnomAD v2: 1-8921454-C-G
• gnomAD v3: 1-8861395-C-G
• gnomAD v4: 1-8861395-C-G
• MyVariant Identifiers: chr1:g.8921454C>G (hg19) ; chr1:g.8861395C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8861395C>G , CM000663.2:g.8861395C>G	GRCh38
NC_000001.10:g.8921454C>G , CM000663.1:g.8921454C>G	GRCh37
NC_000001.9:g.8844041C>G	NCBI36
NG_029470.1:g.22698G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234590.10:c.1270G>C MANE Select	ENSP00000234590.4:p.Ala424Pro
ENST00000464920.2:n.2155G>C
ENST00000646370.2:c.*1023G>C	ENSP00000495568.1:n.*1023G>C
ENST00000647408.1:c.1270G>C	ENSP00000495530.1:p.Ala424Pro
ENST00000234590.8:c.1270G>C	ENSP00000234590.4:p.Ala424Pro
ENST00000464920.1:n.1876G>C
NM_001201483.1:c.991G>C	NP_001188412.1:p.Ala331Pro
NM_001428.3:c.1270G>C	NP_001419.1:p.Ala424Pro
XM_006710433.1:c.1270G>C	XP_006710496.1:p.Ala424Pro
NM_001201483.3:c.991G>C	NP_001188412.1:p.Ala331Pro
NM_001353346.2:c.1270G>C	NP_001340275.1:p.Ala424Pro
NM_001428.5:c.1270G>C MANE Select	NP_001419.1:p.Ala424Pro
NM_001201483.4:c.991G>C	NP_001188412.1:p.Ala331Pro
NM_001353346.3:c.1270G>C	NP_001340275.1:p.Ala424Pro