Canonical Allele Identifier: CA400568378

Gene: ACE

Linked Data

• gnomAD v4: 17-63497158-C-T
• MyVariant Identifiers: chr17:g.61574519C>T (hg19) ; chr17:g.63497158C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497158C>T , CM000679.2:g.63497158C>T	GRCh38
NC_000017.10:g.61574519C>T , CM000679.1:g.61574519C>T	GRCh37
NC_000017.9:g.58928251C>T	NCBI36
NG_011648.1:g.25086C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3713C>T MANE Select	ENSP00000290866.4:p.Pro1238Leu
ENST00000290863.10:c.1991C>T	ENSP00000290863.6:p.Pro664Leu
ENST00000290866.9:c.3713C>T	ENSP00000290866.4:p.Pro1238Leu
ENST00000413513.7:c.1868C>T	ENSP00000392247.3:p.Pro623Leu
ENST00000428043.5:c.*135C>T	ENSP00000397593.2:n.*135C>T
ENST00000577418.5:n.723C>T
ENST00000577647.2:c.1969+173C>T	ENSP00000464149.1:n.1969+173C>T
ENST00000578839.5:c.*1468C>T	ENSP00000462110.2:n.*1468C>T
ENST00000579314.5:c.*1442C>T	ENSP00000462599.1:n.*1442C>T
NM_000789.3:c.3713C>T	NP_000780.1:p.Pro1238Leu
NM_001178057.1:c.1868C>T	NP_001171528.1:p.Pro623Leu
NM_152830.2:c.1991C>T	NP_690043.1:p.Pro664Leu
XM_005257110.1:c.3164C>T	XP_005257167.1:p.Pro1055Leu
XM_006721737.2:c.2051C>T	XP_006721800.2:p.Pro684Leu
XM_006721737.3:c.2051C>T	XP_006721800.2:p.Pro684Leu
NM_000789.4:c.3713C>T MANE Select	NP_000780.1:p.Pro1238Leu
NM_001178057.2:c.1868C>T	NP_001171528.1:p.Pro623Leu
NM_152830.3:c.1991C>T	NP_690043.1:p.Pro664Leu
NM_001382700.1:c.3146C>T	NP_001369629.1:p.Pro1049Leu
NM_001382701.1:c.2861C>T	NP_001369630.1:p.Pro954Leu
NM_001382702.1:c.1328C>T	NP_001369631.1:p.Pro443Leu
NR_168483.1:n.2091C>T