Canonical Allele Identifier: CA501187624

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566148C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488787C>G , CM000679.2:g.63488787C>G	GRCh38
NC_000017.10:g.61566148C>G , CM000679.1:g.61566148C>G	GRCh37
NC_000017.9:g.58919880C>G	NCBI36
NG_011648.1:g.16715C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2445C>G MANE Select	ENSP00000290866.4:p.Leu815=
ENST00000290863.10:c.723C>G	ENSP00000290863.6:p.Leu241=
ENST00000290866.9:c.2445C>G	ENSP00000290866.4:p.Leu815=
ENST00000413513.7:c.723C>G	ENSP00000392247.3:p.Leu241=
ENST00000428043.5:c.2445C>G	ENSP00000397593.2:p.Leu815=
ENST00000577647.2:c.723C>G	ENSP00000464149.1:p.Leu241=
ENST00000578839.5:c.*515C>G	ENSP00000462110.2:n.*515C>G
ENST00000579204.1:c.704C>G	ENSP00000464629.1:n.704C>G
ENST00000579314.5:c.*174C>G	ENSP00000462599.1:n.*174C>G
ENST00000582005.5:c.*365C>G	ENSP00000462002.1:n.*365C>G
ENST00000582761.1:c.213C>G	ENSP00000462909.1:p.Leu71=
ENST00000584865.5:n.391C>G
NM_000789.3:c.2445C>G	NP_000780.1:p.Leu815=
NM_001178057.1:c.723C>G	NP_001171528.1:p.Leu241=
NM_152830.2:c.723C>G	NP_690043.1:p.Leu241=
XM_005257110.1:c.1896C>G	XP_005257167.1:p.Leu632=
XM_006721737.2:c.783C>G	XP_006721800.2:p.Leu261=
XM_006721737.3:c.783C>G	XP_006721800.2:p.Leu261=
NM_000789.4:c.2445C>G MANE Select	NP_000780.1:p.Leu815=
NM_001178057.2:c.723C>G	NP_001171528.1:p.Leu241=
NM_152830.3:c.723C>G	NP_690043.1:p.Leu241=
NM_001382700.1:c.1878C>G	NP_001369629.1:p.Leu626=
NM_001382701.1:c.1593C>G	NP_001369630.1:p.Leu531=
NM_001382702.1:c.375C>G	NP_001369631.1:p.Leu125=
NR_168483.1:n.823C>G