Canonical Allele Identifier: CA400566488

Gene: ACE

Linked Data

• dbSNP Id: rs1599158062
• MyVariant Identifiers: chr17:g.61574160A>C (hg19) ; chr17:g.63496799A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496799A>C , CM000679.2:g.63496799A>C	GRCh38
NC_000017.10:g.61574160A>C , CM000679.1:g.61574160A>C	GRCh37
NC_000017.9:g.58927892A>C	NCBI36
NG_011648.1:g.24727A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3505A>C MANE Select	ENSP00000290866.4:p.Thr1169Pro
ENST00000290863.10:c.1783A>C	ENSP00000290863.6:p.Thr595Pro
ENST00000290866.9:c.3505A>C	ENSP00000290866.4:p.Thr1169Pro
ENST00000413513.7:c.1660A>C	ENSP00000392247.3:p.Thr554Pro
ENST00000428043.5:c.3505A>C	ENSP00000397593.2:p.Thr1169Pro
ENST00000577418.5:n.515A>C
ENST00000577647.2:c.1783A>C	ENSP00000464149.1:p.Thr595Pro
ENST00000578839.5:c.*1260A>C	ENSP00000462110.2:n.*1260A>C
ENST00000579314.5:c.*1234A>C	ENSP00000462599.1:n.*1234A>C
ENST00000579409.1:c.192A>C
ENST00000582244.1:n.379A>C
NM_000789.3:c.3505A>C	NP_000780.1:p.Thr1169Pro
NM_001178057.1:c.1660A>C	NP_001171528.1:p.Thr554Pro
NM_152830.2:c.1783A>C	NP_690043.1:p.Thr595Pro
XM_005257110.1:c.2956A>C	XP_005257167.1:p.Thr986Pro
XM_006721737.2:c.1843A>C	XP_006721800.2:p.Thr615Pro
XM_006721737.3:c.1843A>C	XP_006721800.2:p.Thr615Pro
NM_000789.4:c.3505A>C MANE Select	NP_000780.1:p.Thr1169Pro
NM_001178057.2:c.1660A>C	NP_001171528.1:p.Thr554Pro
NM_152830.3:c.1783A>C	NP_690043.1:p.Thr595Pro
NM_001382700.1:c.2938A>C	NP_001369629.1:p.Thr980Pro
NM_001382701.1:c.2653A>C	NP_001369630.1:p.Thr885Pro
NM_001382702.1:c.1120A>C	NP_001369631.1:p.Thr374Pro
NR_168483.1:n.1883A>C