Canonical Allele Identifier: CA501342444

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574297G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496936G>C , CM000679.2:g.63496936G>C	GRCh38
NC_000017.10:g.61574297G>C , CM000679.1:g.61574297G>C	GRCh37
NC_000017.9:g.58928029G>C	NCBI36
NG_011648.1:g.24864G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3642G>C MANE Select	ENSP00000290866.4:p.Leu1214=
ENST00000290863.10:c.1920G>C	ENSP00000290863.6:p.Leu640=
ENST00000290866.9:c.3642G>C	ENSP00000290866.4:p.Leu1214=
ENST00000413513.7:c.1797G>C	ENSP00000392247.3:p.Leu599=
ENST00000428043.5:c.3642G>C	ENSP00000397593.2:p.Leu1214=
ENST00000577418.5:n.652G>C
ENST00000577647.2:c.1920G>C	ENSP00000464149.1:p.Leu640=
ENST00000578839.5:c.*1397G>C	ENSP00000462110.2:n.*1397G>C
ENST00000579314.5:c.*1371G>C	ENSP00000462599.1:n.*1371G>C
ENST00000579409.1:c.329G>C
ENST00000582244.1:n.516G>C
NM_000789.3:c.3642G>C	NP_000780.1:p.Leu1214=
NM_001178057.1:c.1797G>C	NP_001171528.1:p.Leu599=
NM_152830.2:c.1920G>C	NP_690043.1:p.Leu640=
XM_005257110.1:c.3093G>C	XP_005257167.1:p.Leu1031=
XM_006721737.2:c.1980G>C	XP_006721800.2:p.Leu660=
XM_006721737.3:c.1980G>C	XP_006721800.2:p.Leu660=
NM_000789.4:c.3642G>C MANE Select	NP_000780.1:p.Leu1214=
NM_001178057.2:c.1797G>C	NP_001171528.1:p.Leu599=
NM_152830.3:c.1920G>C	NP_690043.1:p.Leu640=
NM_001382700.1:c.3075G>C	NP_001369629.1:p.Leu1025=
NM_001382701.1:c.2790G>C	NP_001369630.1:p.Leu930=
NM_001382702.1:c.1257G>C	NP_001369631.1:p.Leu419=
NR_168483.1:n.2020G>C