Canonical Allele Identifier: CA292890400

Gene: ACE

Linked Data

• ClinVar Variation Id: 2186797
• ClinVar RCV Id: RCV002606912
• dbSNP Id: rs372282664
• gnomAD v2: 17-61574501-G-T
• gnomAD v3: 17-63497140-G-T
• gnomAD v4: 17-63497140-G-T
• MyVariant Identifiers: chr17:g.61574501G>T (hg19) ; chr17:g.63497140G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497140G>T , CM000679.2:g.63497140G>T	GRCh38
NC_000017.10:g.61574501G>T , CM000679.1:g.61574501G>T	GRCh37
NC_000017.9:g.58928233G>T	NCBI36
NG_011648.1:g.25068G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3695G>T MANE Select	ENSP00000290866.4:p.Arg1232Leu
ENST00000290863.10:c.1973G>T	ENSP00000290863.6:p.Arg658Leu
ENST00000290866.9:c.3695G>T	ENSP00000290866.4:p.Arg1232Leu
ENST00000413513.7:c.1850G>T	ENSP00000392247.3:p.Arg617Leu
ENST00000428043.5:c.*117G>T	ENSP00000397593.2:n.*117G>T
ENST00000577418.5:n.705G>T
ENST00000577647.2:c.1969+155G>T	ENSP00000464149.1:n.1969+155G>T
ENST00000578839.5:c.*1450G>T	ENSP00000462110.2:n.*1450G>T
ENST00000579314.5:c.*1424G>T	ENSP00000462599.1:n.*1424G>T
ENST00000579409.1:c.533G>T
NM_000789.3:c.3695G>T	NP_000780.1:p.Arg1232Leu
NM_001178057.1:c.1850G>T	NP_001171528.1:p.Arg617Leu
NM_152830.2:c.1973G>T	NP_690043.1:p.Arg658Leu
XM_005257110.1:c.3146G>T	XP_005257167.1:p.Arg1049Leu
XM_006721737.2:c.2033G>T	XP_006721800.2:p.Arg678Leu
XM_006721737.3:c.2033G>T	XP_006721800.2:p.Arg678Leu
NM_000789.4:c.3695G>T MANE Select	NP_000780.1:p.Arg1232Leu
NM_001178057.2:c.1850G>T	NP_001171528.1:p.Arg617Leu
NM_152830.3:c.1973G>T	NP_690043.1:p.Arg658Leu
NM_001382700.1:c.3128G>T	NP_001369629.1:p.Arg1043Leu
NM_001382701.1:c.2843G>T	NP_001369630.1:p.Arg948Leu
NM_001382702.1:c.1310G>T	NP_001369631.1:p.Arg437Leu
NR_168483.1:n.2073G>T