Canonical Allele Identifier: CA8700578

Gene: ACE

Linked Data

• ClinVar Variation Id: 891217
• ClinVar RCV Id: RCV001126367 ; RCV002556745 ; RCV002556746
• dbSNP Id: rs140941300
• ExAC: 17:61574311 T / C
• gnomAD v2: 17-61574311-T-C
• gnomAD v3: 17-63496950-T-C
• gnomAD v4: 17-63496950-T-C
• MyVariant Identifiers: chr17:g.61574311T>C (hg19) ; chr17:g.63496950T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496950T>C , CM000679.2:g.63496950T>C	GRCh38
NC_000017.10:g.61574311T>C , CM000679.1:g.61574311T>C	GRCh37
NC_000017.9:g.58928043T>C	NCBI36
NG_011648.1:g.24878T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3656T>C MANE Select	ENSP00000290866.4:p.Leu1219Pro
ENST00000290863.10:c.1934T>C	ENSP00000290863.6:p.Leu645Pro
ENST00000290866.9:c.3656T>C	ENSP00000290866.4:p.Leu1219Pro
ENST00000413513.7:c.1811T>C	ENSP00000392247.3:p.Leu604Pro
ENST00000428043.5:c.3656T>C	ENSP00000397593.2:p.Leu1219Pro
ENST00000577418.5:n.666T>C
ENST00000577647.2:c.1934T>C	ENSP00000464149.1:p.Leu645Pro
ENST00000578839.5:c.*1411T>C	ENSP00000462110.2:n.*1411T>C
ENST00000579314.5:c.*1385T>C	ENSP00000462599.1:n.*1385T>C
ENST00000579409.1:c.343T>C
ENST00000582244.1:n.530T>C
NM_000789.3:c.3656T>C	NP_000780.1:p.Leu1219Pro
NM_001178057.1:c.1811T>C	NP_001171528.1:p.Leu604Pro
NM_152830.2:c.1934T>C	NP_690043.1:p.Leu645Pro
XM_005257110.1:c.3107T>C	XP_005257167.1:p.Leu1036Pro
XM_006721737.2:c.1994T>C	XP_006721800.2:p.Leu665Pro
XM_006721737.3:c.1994T>C	XP_006721800.2:p.Leu665Pro
NM_000789.4:c.3656T>C MANE Select	NP_000780.1:p.Leu1219Pro
NM_001178057.2:c.1811T>C	NP_001171528.1:p.Leu604Pro
NM_152830.3:c.1934T>C	NP_690043.1:p.Leu645Pro
NM_001382700.1:c.3089T>C	NP_001369629.1:p.Leu1030Pro
NM_001382701.1:c.2804T>C	NP_001369630.1:p.Leu935Pro
NM_001382702.1:c.1271T>C	NP_001369631.1:p.Leu424Pro
NR_168483.1:n.2034T>C