Canonical Allele Identifier: CA501187222

Gene: ACE

Linked Data

• COSMIC: COSM3520671 ; COSM3520672 ; COSM3520673
• MyVariant Identifiers: chr17:g.61566100C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488739C>T , CM000679.2:g.63488739C>T	GRCh38
NC_000017.10:g.61566100C>T , CM000679.1:g.61566100C>T	GRCh37
NC_000017.9:g.58919832C>T	NCBI36
NG_011648.1:g.16667C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2397C>T MANE Select	ENSP00000290866.4:p.Leu799=
ENST00000290863.10:c.675C>T	ENSP00000290863.6:p.Leu225=
ENST00000290866.9:c.2397C>T	ENSP00000290866.4:p.Leu799=
ENST00000413513.7:c.675C>T	ENSP00000392247.3:p.Leu225=
ENST00000428043.5:c.2397C>T	ENSP00000397593.2:p.Leu799=
ENST00000577647.2:c.675C>T	ENSP00000464149.1:p.Leu225=
ENST00000578839.5:c.*467C>T	ENSP00000462110.2:n.*467C>T
ENST00000579204.1:c.656C>T	ENSP00000464629.1:n.656C>T
ENST00000579314.5:c.*126C>T	ENSP00000462599.1:n.*126C>T
ENST00000582005.5:c.*317C>T	ENSP00000462002.1:n.*317C>T
ENST00000582761.1:c.165C>T	ENSP00000462909.1:p.Leu55=
ENST00000584865.5:n.343C>T
NM_000789.3:c.2397C>T	NP_000780.1:p.Leu799=
NM_001178057.1:c.675C>T	NP_001171528.1:p.Leu225=
NM_152830.2:c.675C>T	NP_690043.1:p.Leu225=
XM_005257110.1:c.1848C>T	XP_005257167.1:p.Leu616=
XM_006721737.2:c.735C>T	XP_006721800.2:p.Leu245=
XM_006721737.3:c.735C>T	XP_006721800.2:p.Leu245=
NM_000789.4:c.2397C>T MANE Select	NP_000780.1:p.Leu799=
NM_001178057.2:c.675C>T	NP_001171528.1:p.Leu225=
NM_152830.3:c.675C>T	NP_690043.1:p.Leu225=
NM_001382700.1:c.1830C>T	NP_001369629.1:p.Leu610=
NM_001382701.1:c.1545C>T	NP_001369630.1:p.Leu515=
NM_001382702.1:c.327C>T	NP_001369631.1:p.Leu109=
NR_168483.1:n.775C>T