Canonical Allele Identifier: CA10649780

Gene: ACE

Linked Data

• ClinVar Variation Id: 324422
• ClinVar RCV Id: RCV000389177
• dbSNP Id: rs886053226
• gnomAD v3: 17-63497329-C-T
• gnomAD v4: 17-63497329-C-T
• MyVariant Identifiers: chr17:g.61574690C>T (hg19) ; chr17:g.63497329C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497329C>T , CM000679.2:g.63497329C>T	GRCh38
NC_000017.10:g.61574690C>T , CM000679.1:g.61574690C>T	GRCh37
NC_000017.9:g.58928422C>T	NCBI36
NG_011648.1:g.25257C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3884C>T MANE Select	ENSP00000290866.4:p.Pro1295Leu
ENST00000290863.10:c.2162C>T	ENSP00000290863.6:p.Pro721Leu
ENST00000290866.9:c.3884C>T	ENSP00000290866.4:p.Pro1295Leu
ENST00000413513.7:c.2039C>T	ENSP00000392247.3:p.Pro680Leu
ENST00000428043.5:c.*306C>T	ENSP00000397593.2:n.*306C>T
ENST00000577647.2:c.1969+344C>T	ENSP00000464149.1:n.1969+344C>T
ENST00000578839.5:c.*1639C>T	ENSP00000462110.2:n.*1639C>T
ENST00000579314.5:c.*1613C>T	ENSP00000462599.1:n.*1613C>T
NM_000789.3:c.3884C>T	NP_000780.1:p.Pro1295Leu
NM_001178057.1:c.2039C>T	NP_001171528.1:p.Pro680Leu
NM_152830.2:c.2162C>T	NP_690043.1:p.Pro721Leu
XM_005257110.1:c.3335C>T	XP_005257167.1:p.Pro1112Leu
XM_006721737.2:c.2222C>T	XP_006721800.2:p.Pro741Leu
XM_006721737.3:c.2222C>T	XP_006721800.2:p.Pro741Leu
NM_000789.4:c.3884C>T MANE Select	NP_000780.1:p.Pro1295Leu
NM_001178057.2:c.2039C>T	NP_001171528.1:p.Pro680Leu
NM_152830.3:c.2162C>T	NP_690043.1:p.Pro721Leu
NM_001382700.1:c.3317C>T	NP_001369629.1:p.Pro1106Leu
NM_001382701.1:c.3032C>T	NP_001369630.1:p.Pro1011Leu
NM_001382702.1:c.1499C>T	NP_001369631.1:p.Pro500Leu
NR_168483.1:n.2262C>T