Canonical Allele Identifier: CA8700680

Gene: ACE

Linked Data

• ClinVar Variation Id: 1577402
• ClinVar RCV Id: RCV002087966 ; RCV003007031
• dbSNP Id: rs752812293
• ExAC: 17:61574674 C / T
• gnomAD v2: 17-61574674-C-T
• gnomAD v3: 17-63497313-C-T
• gnomAD v4: 17-63497313-C-T
• MyVariant Identifiers: chr17:g.61574674C>T (hg19) ; chr17:g.63497313C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497313C>T , CM000679.2:g.63497313C>T	GRCh38
NC_000017.10:g.61574674C>T , CM000679.1:g.61574674C>T	GRCh37
NC_000017.9:g.58928406C>T	NCBI36
NG_011648.1:g.25241C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3868C>T MANE Select	ENSP00000290866.4:p.Arg1290Trp
ENST00000290863.10:c.2146C>T	ENSP00000290863.6:p.Arg716Trp
ENST00000290866.9:c.3868C>T	ENSP00000290866.4:p.Arg1290Trp
ENST00000413513.7:c.2023C>T	ENSP00000392247.3:p.Arg675Trp
ENST00000428043.5:c.*290C>T	ENSP00000397593.2:n.*290C>T
ENST00000577647.2:c.1969+328C>T	ENSP00000464149.1:n.1969+328C>T
ENST00000578839.5:c.*1623C>T	ENSP00000462110.2:n.*1623C>T
ENST00000579314.5:c.*1597C>T	ENSP00000462599.1:n.*1597C>T
NM_000789.3:c.3868C>T	NP_000780.1:p.Arg1290Trp
NM_001178057.1:c.2023C>T	NP_001171528.1:p.Arg675Trp
NM_152830.2:c.2146C>T	NP_690043.1:p.Arg716Trp
XM_005257110.1:c.3319C>T	XP_005257167.1:p.Arg1107Trp
XM_006721737.2:c.2206C>T	XP_006721800.2:p.Arg736Trp
XM_006721737.3:c.2206C>T	XP_006721800.2:p.Arg736Trp
NM_000789.4:c.3868C>T MANE Select	NP_000780.1:p.Arg1290Trp
NM_001178057.2:c.2023C>T	NP_001171528.1:p.Arg675Trp
NM_152830.3:c.2146C>T	NP_690043.1:p.Arg716Trp
NM_001382700.1:c.3301C>T	NP_001369629.1:p.Arg1101Trp
NM_001382701.1:c.3016C>T	NP_001369630.1:p.Arg1006Trp
NM_001382702.1:c.1483C>T	NP_001369631.1:p.Arg495Trp
NR_168483.1:n.2246C>T