Canonical Allele Identifier: CA501186864

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566052G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488691G>T , CM000679.2:g.63488691G>T	GRCh38
NC_000017.10:g.61566052G>T , CM000679.1:g.61566052G>T	GRCh37
NC_000017.9:g.58919784G>T	NCBI36
NG_011648.1:g.16619G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2349G>T MANE Select	ENSP00000290866.4:p.Leu783=
ENST00000290863.10:c.627G>T	ENSP00000290863.6:p.Leu209=
ENST00000290866.9:c.2349G>T	ENSP00000290866.4:p.Leu783=
ENST00000413513.7:c.627G>T	ENSP00000392247.3:p.Leu209=
ENST00000428043.5:c.2349G>T	ENSP00000397593.2:p.Leu783=
ENST00000577647.2:c.627G>T	ENSP00000464149.1:p.Leu209=
ENST00000578839.5:c.*419G>T	ENSP00000462110.2:n.*419G>T
ENST00000579204.1:c.608G>T	ENSP00000464629.1:n.608G>T
ENST00000579314.5:c.*78G>T	ENSP00000462599.1:n.*78G>T
ENST00000582005.5:c.*269G>T	ENSP00000462002.1:n.*269G>T
ENST00000582761.1:c.117G>T	ENSP00000462909.1:p.Leu39=
ENST00000584865.5:n.295G>T
NM_000789.3:c.2349G>T	NP_000780.1:p.Leu783=
NM_001178057.1:c.627G>T	NP_001171528.1:p.Leu209=
NM_152830.2:c.627G>T	NP_690043.1:p.Leu209=
XM_005257110.1:c.1800G>T	XP_005257167.1:p.Leu600=
XM_006721737.2:c.687G>T	XP_006721800.2:p.Leu229=
XM_006721737.3:c.687G>T	XP_006721800.2:p.Leu229=
NM_000789.4:c.2349G>T MANE Select	NP_000780.1:p.Leu783=
NM_001178057.2:c.627G>T	NP_001171528.1:p.Leu209=
NM_152830.3:c.627G>T	NP_690043.1:p.Leu209=
NM_001382700.1:c.1782G>T	NP_001369629.1:p.Leu594=
NM_001382701.1:c.1497G>T	NP_001369630.1:p.Leu499=
NM_001382702.1:c.279G>T	NP_001369631.1:p.Leu93=
NR_168483.1:n.727G>T