Canonical Allele Identifier: CA400568882

Gene: ACE

Linked Data

• gnomAD v4: 17-63497238-C-G
• MyVariant Identifiers: chr17:g.61574599C>G (hg19) ; chr17:g.63497238C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497238C>G , CM000679.2:g.63497238C>G	GRCh38
NC_000017.10:g.61574599C>G , CM000679.1:g.61574599C>G	GRCh37
NC_000017.9:g.58928331C>G	NCBI36
NG_011648.1:g.25166C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3793C>G MANE Select	ENSP00000290866.4:p.Leu1265Val
ENST00000290863.10:c.2071C>G	ENSP00000290863.6:p.Leu691Val
ENST00000290866.9:c.3793C>G	ENSP00000290866.4:p.Leu1265Val
ENST00000413513.7:c.1948C>G	ENSP00000392247.3:p.Leu650Val
ENST00000428043.5:c.*215C>G	ENSP00000397593.2:n.*215C>G
ENST00000577647.2:c.1969+253C>G	ENSP00000464149.1:n.1969+253C>G
ENST00000578839.5:c.*1548C>G	ENSP00000462110.2:n.*1548C>G
ENST00000579314.5:c.*1522C>G	ENSP00000462599.1:n.*1522C>G
NM_000789.3:c.3793C>G	NP_000780.1:p.Leu1265Val
NM_001178057.1:c.1948C>G	NP_001171528.1:p.Leu650Val
NM_152830.2:c.2071C>G	NP_690043.1:p.Leu691Val
XM_005257110.1:c.3244C>G	XP_005257167.1:p.Leu1082Val
XM_006721737.2:c.2131C>G	XP_006721800.2:p.Leu711Val
XM_006721737.3:c.2131C>G	XP_006721800.2:p.Leu711Val
NM_000789.4:c.3793C>G MANE Select	NP_000780.1:p.Leu1265Val
NM_001178057.2:c.1948C>G	NP_001171528.1:p.Leu650Val
NM_152830.3:c.2071C>G	NP_690043.1:p.Leu691Val
NM_001382700.1:c.3226C>G	NP_001369629.1:p.Leu1076Val
NM_001382701.1:c.2941C>G	NP_001369630.1:p.Leu981Val
NM_001382702.1:c.1408C>G	NP_001369631.1:p.Leu470Val
NR_168483.1:n.2171C>G