Canonical Allele Identifier: CA8700643

Gene: ACE

Linked Data

• ClinVar Variation Id: 2867428
• ClinVar RCV Id: RCV003702728
• dbSNP Id: rs755904563
• ExAC: 17:61574514 C / T
• gnomAD v2: 17-61574514-C-T
• gnomAD v4: 17-63497153-C-T
• MyVariant Identifiers: chr17:g.61574514C>T (hg19) ; chr17:g.63497153C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497153C>T , CM000679.2:g.63497153C>T	GRCh38
NC_000017.10:g.61574514C>T , CM000679.1:g.61574514C>T	GRCh37
NC_000017.9:g.58928246C>T	NCBI36
NG_011648.1:g.25081C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3708C>T MANE Select	ENSP00000290866.4:p.Pro1236=
ENST00000290863.10:c.1986C>T	ENSP00000290863.6:p.Pro662=
ENST00000290866.9:c.3708C>T	ENSP00000290866.4:p.Pro1236=
ENST00000413513.7:c.1863C>T	ENSP00000392247.3:p.Pro621=
ENST00000428043.5:c.*130C>T	ENSP00000397593.2:n.*130C>T
ENST00000577418.5:n.718C>T
ENST00000577647.2:c.1969+168C>T	ENSP00000464149.1:n.1969+168C>T
ENST00000578839.5:c.*1463C>T	ENSP00000462110.2:n.*1463C>T
ENST00000579314.5:c.*1437C>T	ENSP00000462599.1:n.*1437C>T
ENST00000579409.1:c.546C>T
NM_000789.3:c.3708C>T	NP_000780.1:p.Pro1236=
NM_001178057.1:c.1863C>T	NP_001171528.1:p.Pro621=
NM_152830.2:c.1986C>T	NP_690043.1:p.Pro662=
XM_005257110.1:c.3159C>T	XP_005257167.1:p.Pro1053=
XM_006721737.2:c.2046C>T	XP_006721800.2:p.Pro682=
XM_006721737.3:c.2046C>T	XP_006721800.2:p.Pro682=
NM_000789.4:c.3708C>T MANE Select	NP_000780.1:p.Pro1236=
NM_001178057.2:c.1863C>T	NP_001171528.1:p.Pro621=
NM_152830.3:c.1986C>T	NP_690043.1:p.Pro662=
NM_001382700.1:c.3141C>T	NP_001369629.1:p.Pro1047=
NM_001382701.1:c.2856C>T	NP_001369630.1:p.Pro952=
NM_001382702.1:c.1323C>T	NP_001369631.1:p.Pro441=
NR_168483.1:n.2086C>T