Canonical Allele Identifier: CA501342411

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574270G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496909G>C , CM000679.2:g.63496909G>C	GRCh38
NC_000017.10:g.61574270G>C , CM000679.1:g.61574270G>C	GRCh37
NC_000017.9:g.58928002G>C	NCBI36
NG_011648.1:g.24837G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3615G>C MANE Select	ENSP00000290866.4:p.Leu1205=
ENST00000290863.10:c.1893G>C	ENSP00000290863.6:p.Leu631=
ENST00000290866.9:c.3615G>C	ENSP00000290866.4:p.Leu1205=
ENST00000413513.7:c.1770G>C	ENSP00000392247.3:p.Leu590=
ENST00000428043.5:c.3615G>C	ENSP00000397593.2:p.Leu1205=
ENST00000577418.5:n.625G>C
ENST00000577647.2:c.1893G>C	ENSP00000464149.1:p.Leu631=
ENST00000578839.5:c.*1370G>C	ENSP00000462110.2:n.*1370G>C
ENST00000579314.5:c.*1344G>C	ENSP00000462599.1:n.*1344G>C
ENST00000579409.1:c.302G>C
ENST00000582244.1:n.489G>C
NM_000789.3:c.3615G>C	NP_000780.1:p.Leu1205=
NM_001178057.1:c.1770G>C	NP_001171528.1:p.Leu590=
NM_152830.2:c.1893G>C	NP_690043.1:p.Leu631=
XM_005257110.1:c.3066G>C	XP_005257167.1:p.Leu1022=
XM_006721737.2:c.1953G>C	XP_006721800.2:p.Leu651=
XM_006721737.3:c.1953G>C	XP_006721800.2:p.Leu651=
NM_000789.4:c.3615G>C MANE Select	NP_000780.1:p.Leu1205=
NM_001178057.2:c.1770G>C	NP_001171528.1:p.Leu590=
NM_152830.3:c.1893G>C	NP_690043.1:p.Leu631=
NM_001382700.1:c.3048G>C	NP_001369629.1:p.Leu1016=
NM_001382701.1:c.2763G>C	NP_001369630.1:p.Leu921=
NM_001382702.1:c.1230G>C	NP_001369631.1:p.Leu410=
NR_168483.1:n.1993G>C