Canonical Allele Identifier: CA400555879

Gene: ACE

Linked Data

• COSMIC: COSM5055677 ; COSM5055678 ; COSM5055679
• MyVariant Identifiers: chr17:g.61563973G>C (hg19) ; chr17:g.63486612G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486612G>C , CM000679.2:g.63486612G>C	GRCh38
NC_000017.10:g.61563973G>C , CM000679.1:g.61563973G>C	GRCh37
NC_000017.9:g.58917705G>C	NCBI36
NG_011648.1:g.14540G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2114G>C MANE Select	ENSP00000290866.4:p.Arg705Thr
ENST00000290863.10:c.392G>C	ENSP00000290863.6:p.Arg131Thr
ENST00000290866.9:c.2114G>C	ENSP00000290866.4:p.Arg705Thr
ENST00000413513.7:c.392G>C	ENSP00000392247.3:p.Arg131Thr
ENST00000428043.5:c.2114G>C	ENSP00000397593.2:p.Arg705Thr
ENST00000577647.2:c.392G>C	ENSP00000464149.1:p.Arg131Thr
ENST00000578839.5:c.*184G>C	ENSP00000462110.2:n.*184G>C
ENST00000579204.1:c.295G>C	ENSP00000464629.1:n.295G>C
ENST00000579314.5:c.392G>C	ENSP00000462599.1:p.Arg131Thr
ENST00000579726.5:c.676G>C
ENST00000582005.5:c.*34G>C	ENSP00000462002.1:n.*34G>C
NM_000789.3:c.2114G>C	NP_000780.1:p.Arg705Thr
NM_001178057.1:c.392G>C	NP_001171528.1:p.Arg131Thr
NM_152830.2:c.392G>C	NP_690043.1:p.Arg131Thr
XM_005257110.1:c.1565G>C	XP_005257167.1:p.Arg522Thr
XM_006721737.2:c.452G>C	XP_006721800.2:p.Arg151Thr
XM_006721737.3:c.452G>C	XP_006721800.2:p.Arg151Thr
NM_000789.4:c.2114G>C MANE Select	NP_000780.1:p.Arg705Thr
NM_001178057.2:c.392G>C	NP_001171528.1:p.Arg131Thr
NM_152830.3:c.392G>C	NP_690043.1:p.Arg131Thr
NM_001382700.1:c.1547G>C	NP_001369629.1:p.Arg516Thr
NM_001382701.1:c.1262G>C	NP_001369630.1:p.Arg421Thr
NM_001382702.1:c.44G>C	NP_001369631.1:p.Arg15Thr
NR_168483.1:n.414G>C