Canonical Allele Identifier: CA501188042

Gene: ACE

Linked Data

• COSMIC: COSM371799
• MyVariant Identifiers: chr17:g.61566405C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489044C>T , CM000679.2:g.63489044C>T	GRCh38
NC_000017.10:g.61566405C>T , CM000679.1:g.61566405C>T	GRCh37
NC_000017.9:g.58920137C>T	NCBI36
NG_011648.1:g.16972C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2553C>T MANE Select	ENSP00000290866.4:p.Asn851=
ENST00000290863.10:c.831C>T	ENSP00000290863.6:p.Asn277=
ENST00000290866.9:c.2553C>T	ENSP00000290866.4:p.Asn851=
ENST00000413513.7:c.831C>T	ENSP00000392247.3:p.Asn277=
ENST00000428043.5:c.2553C>T	ENSP00000397593.2:p.Asn851=
ENST00000577647.2:c.831C>T	ENSP00000464149.1:p.Asn277=
ENST00000578839.5:c.*519+253C>T	ENSP00000462110.2:n.*519+253C>T
ENST00000579314.5:c.*282C>T	ENSP00000462599.1:n.*282C>T
ENST00000582005.5:c.*473C>T	ENSP00000462002.1:n.*473C>T
ENST00000582761.1:c.321C>T	ENSP00000462909.1:p.Asn107=
ENST00000584865.5:n.499C>T
NM_000789.3:c.2553C>T	NP_000780.1:p.Asn851=
NM_001178057.1:c.831C>T	NP_001171528.1:p.Asn277=
NM_152830.2:c.831C>T	NP_690043.1:p.Asn277=
XM_005257110.1:c.2004C>T	XP_005257167.1:p.Asn668=
XM_006721737.2:c.891C>T	XP_006721800.2:p.Asn297=
XM_006721737.3:c.891C>T	XP_006721800.2:p.Asn297=
NM_000789.4:c.2553C>T MANE Select	NP_000780.1:p.Asn851=
NM_001178057.2:c.831C>T	NP_001171528.1:p.Asn277=
NM_152830.3:c.831C>T	NP_690043.1:p.Asn277=
NM_001382700.1:c.1986C>T	NP_001369629.1:p.Asn662=
NM_001382701.1:c.1701C>T	NP_001369630.1:p.Asn567=
NM_001382702.1:c.379+253C>T	NP_001369631.1:n.379+253C>T
NR_168483.1:n.931C>T