Canonical Allele Identifier: CA400557926

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566075G>C (hg19) ; chr17:g.63488714G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488714G>C , CM000679.2:g.63488714G>C	GRCh38
NC_000017.10:g.61566075G>C , CM000679.1:g.61566075G>C	GRCh37
NC_000017.9:g.58919807G>C	NCBI36
NG_011648.1:g.16642G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2372G>C MANE Select	ENSP00000290866.4:p.Arg791Pro
ENST00000290863.10:c.650G>C	ENSP00000290863.6:p.Arg217Pro
ENST00000290866.9:c.2372G>C	ENSP00000290866.4:p.Arg791Pro
ENST00000413513.7:c.650G>C	ENSP00000392247.3:p.Arg217Pro
ENST00000428043.5:c.2372G>C	ENSP00000397593.2:p.Arg791Pro
ENST00000577647.2:c.650G>C	ENSP00000464149.1:p.Arg217Pro
ENST00000578839.5:c.*442G>C	ENSP00000462110.2:n.*442G>C
ENST00000579204.1:c.631G>C	ENSP00000464629.1:n.631G>C
ENST00000579314.5:c.*101G>C	ENSP00000462599.1:n.*101G>C
ENST00000582005.5:c.*292G>C	ENSP00000462002.1:n.*292G>C
ENST00000582761.1:c.140G>C	ENSP00000462909.1:p.Arg47Pro
ENST00000584865.5:n.318G>C
NM_000789.3:c.2372G>C	NP_000780.1:p.Arg791Pro
NM_001178057.1:c.650G>C	NP_001171528.1:p.Arg217Pro
NM_152830.2:c.650G>C	NP_690043.1:p.Arg217Pro
XM_005257110.1:c.1823G>C	XP_005257167.1:p.Arg608Pro
XM_006721737.2:c.710G>C	XP_006721800.2:p.Arg237Pro
XM_006721737.3:c.710G>C	XP_006721800.2:p.Arg237Pro
NM_000789.4:c.2372G>C MANE Select	NP_000780.1:p.Arg791Pro
NM_001178057.2:c.650G>C	NP_001171528.1:p.Arg217Pro
NM_152830.3:c.650G>C	NP_690043.1:p.Arg217Pro
NM_001382700.1:c.1805G>C	NP_001369629.1:p.Arg602Pro
NM_001382701.1:c.1520G>C	NP_001369630.1:p.Arg507Pro
NM_001382702.1:c.302G>C	NP_001369631.1:p.Arg101Pro
NR_168483.1:n.750G>C