Canonical Allele Identifier: CA8700670

Gene: ACE

Linked Data

• dbSNP Id: rs768399209
• ExAC: 17:61574614 C / T
• gnomAD v4: 17-63497253-C-T
• COSMIC: COSM6455055 ; COSM6455056
• MyVariant Identifiers: chr17:g.61574614C>T (hg19) ; chr17:g.63497253C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497253C>T , CM000679.2:g.63497253C>T	GRCh38
NC_000017.10:g.61574614C>T , CM000679.1:g.61574614C>T	GRCh37
NC_000017.9:g.58928346C>T	NCBI36
NG_011648.1:g.25181C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3808C>T MANE Select	ENSP00000290866.4:p.Leu1270=
ENST00000290863.10:c.2086C>T	ENSP00000290863.6:p.Leu696=
ENST00000290866.9:c.3808C>T	ENSP00000290866.4:p.Leu1270=
ENST00000413513.7:c.1963C>T	ENSP00000392247.3:p.Leu655=
ENST00000428043.5:c.*230C>T	ENSP00000397593.2:n.*230C>T
ENST00000577647.2:c.1969+268C>T	ENSP00000464149.1:n.1969+268C>T
ENST00000578839.5:c.*1563C>T	ENSP00000462110.2:n.*1563C>T
ENST00000579314.5:c.*1537C>T	ENSP00000462599.1:n.*1537C>T
NM_000789.3:c.3808C>T	NP_000780.1:p.Leu1270=
NM_001178057.1:c.1963C>T	NP_001171528.1:p.Leu655=
NM_152830.2:c.2086C>T	NP_690043.1:p.Leu696=
XM_005257110.1:c.3259C>T	XP_005257167.1:p.Leu1087=
XM_006721737.2:c.2146C>T	XP_006721800.2:p.Leu716=
XM_006721737.3:c.2146C>T	XP_006721800.2:p.Leu716=
NM_000789.4:c.3808C>T MANE Select	NP_000780.1:p.Leu1270=
NM_001178057.2:c.1963C>T	NP_001171528.1:p.Leu655=
NM_152830.3:c.2086C>T	NP_690043.1:p.Leu696=
NM_001382700.1:c.3241C>T	NP_001369629.1:p.Leu1081=
NM_001382701.1:c.2956C>T	NP_001369630.1:p.Leu986=
NM_001382702.1:c.1423C>T	NP_001369631.1:p.Leu475=
NR_168483.1:n.2186C>T