Canonical Allele Identifier: CA400568843

Gene: ACE

Linked Data

• gnomAD v4: 17-63497232-C-T
• MyVariant Identifiers: chr17:g.61574593C>T (hg19) ; chr17:g.63497232C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497232C>T , CM000679.2:g.63497232C>T	GRCh38
NC_000017.10:g.61574593C>T , CM000679.1:g.61574593C>T	GRCh37
NC_000017.9:g.58928325C>T	NCBI36
NG_011648.1:g.25160C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3787C>T MANE Select	ENSP00000290866.4:p.Leu1263Phe
ENST00000290863.10:c.2065C>T	ENSP00000290863.6:p.Leu689Phe
ENST00000290866.9:c.3787C>T	ENSP00000290866.4:p.Leu1263Phe
ENST00000413513.7:c.1942C>T	ENSP00000392247.3:p.Leu648Phe
ENST00000428043.5:c.*209C>T	ENSP00000397593.2:n.*209C>T
ENST00000577647.2:c.1969+247C>T	ENSP00000464149.1:n.1969+247C>T
ENST00000578839.5:c.*1542C>T	ENSP00000462110.2:n.*1542C>T
ENST00000579314.5:c.*1516C>T	ENSP00000462599.1:n.*1516C>T
NM_000789.3:c.3787C>T	NP_000780.1:p.Leu1263Phe
NM_001178057.1:c.1942C>T	NP_001171528.1:p.Leu648Phe
NM_152830.2:c.2065C>T	NP_690043.1:p.Leu689Phe
XM_005257110.1:c.3238C>T	XP_005257167.1:p.Leu1080Phe
XM_006721737.2:c.2125C>T	XP_006721800.2:p.Leu709Phe
XM_006721737.3:c.2125C>T	XP_006721800.2:p.Leu709Phe
NM_000789.4:c.3787C>T MANE Select	NP_000780.1:p.Leu1263Phe
NM_001178057.2:c.1942C>T	NP_001171528.1:p.Leu648Phe
NM_152830.3:c.2065C>T	NP_690043.1:p.Leu689Phe
NM_001382700.1:c.3220C>T	NP_001369629.1:p.Leu1074Phe
NM_001382701.1:c.2935C>T	NP_001369630.1:p.Leu979Phe
NM_001382702.1:c.1402C>T	NP_001369631.1:p.Leu468Phe
NR_168483.1:n.2165C>T