Canonical Allele Identifier: CA400556089

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564008A>C (hg19) ; chr17:g.63486647A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486647A>C , CM000679.2:g.63486647A>C	GRCh38
NC_000017.10:g.61564008A>C , CM000679.1:g.61564008A>C	GRCh37
NC_000017.9:g.58917740A>C	NCBI36
NG_011648.1:g.14575A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2149A>C MANE Select	ENSP00000290866.4:p.Ile717Leu
ENST00000290863.10:c.427A>C	ENSP00000290863.6:p.Ile143Leu
ENST00000290866.9:c.2149A>C	ENSP00000290866.4:p.Ile717Leu
ENST00000413513.7:c.427A>C	ENSP00000392247.3:p.Ile143Leu
ENST00000428043.5:c.2149A>C	ENSP00000397593.2:p.Ile717Leu
ENST00000577647.2:c.427A>C	ENSP00000464149.1:p.Ile143Leu
ENST00000578839.5:c.*219A>C	ENSP00000462110.2:n.*219A>C
ENST00000579204.1:c.330A>C	ENSP00000464629.1:n.330A>C
ENST00000579314.5:c.427A>C	ENSP00000462599.1:p.Ile143Leu
ENST00000579726.5:c.711A>C
ENST00000582005.5:c.*69A>C	ENSP00000462002.1:n.*69A>C
NM_000789.3:c.2149A>C	NP_000780.1:p.Ile717Leu
NM_001178057.1:c.427A>C	NP_001171528.1:p.Ile143Leu
NM_152830.2:c.427A>C	NP_690043.1:p.Ile143Leu
XM_005257110.1:c.1600A>C	XP_005257167.1:p.Ile534Leu
XM_006721737.2:c.487A>C	XP_006721800.2:p.Ile163Leu
XM_006721737.3:c.487A>C	XP_006721800.2:p.Ile163Leu
NM_000789.4:c.2149A>C MANE Select	NP_000780.1:p.Ile717Leu
NM_001178057.2:c.427A>C	NP_001171528.1:p.Ile143Leu
NM_152830.3:c.427A>C	NP_690043.1:p.Ile143Leu
NM_001382700.1:c.1582A>C	NP_001369629.1:p.Ile528Leu
NM_001382701.1:c.1297A>C	NP_001369630.1:p.Ile433Leu
NM_001382702.1:c.79A>C	NP_001369631.1:p.Ile27Leu
NR_168483.1:n.449A>C