Canonical Allele Identifier: CA400567469

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496917T>C , CM000679.2:g.63496917T>C	GRCh38
NC_000017.10:g.61574278T>C , CM000679.1:g.61574278T>C	GRCh37
NC_000017.9:g.58928010T>C	NCBI36
NG_011648.1:g.24845T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000789.4:c.3623T>C MANE Select	NP_000780.1:p.Leu1208Pro
ENST00000290866.10:c.3623T>C MANE Select	ENSP00000290866.4:p.Leu1208Pro
NM_000789.3:c.3623T>C	NP_000780.1:p.Leu1208Pro
NM_001178057.1:c.1778T>C	NP_001171528.1:p.Leu593Pro
NM_001178057.2:c.1778T>C	NP_001171528.1:p.Leu593Pro
NM_001382700.1:c.3056T>C	NP_001369629.1:p.Leu1019Pro
NM_001382701.1:c.2771T>C	NP_001369630.1:p.Leu924Pro
NM_001382702.1:c.1238T>C	NP_001369631.1:p.Leu413Pro
NM_152830.2:c.1901T>C	NP_690043.1:p.Leu634Pro
NM_152830.3:c.1901T>C	NP_690043.1:p.Leu634Pro
NR_168483.1:n.2001T>C
ENST00000290863.10:c.1901T>C	ENSP00000290863.6:p.Leu634Pro
ENST00000290866.9:c.3623T>C	ENSP00000290866.4:p.Leu1208Pro
ENST00000413513.7:c.1778T>C	ENSP00000392247.3:p.Leu593Pro
ENST00000428043.5:c.3623T>C	ENSP00000397593.2:p.Leu1208Pro
ENST00000577418.5:n.633T>C
ENST00000577647.2:c.1901T>C	ENSP00000464149.1:p.Leu634Pro
ENST00000578839.5:c.*1378T>C	ENSP00000462110.2:n.*1378T>C
ENST00000579314.5:c.*1352T>C	ENSP00000462599.1:n.*1352T>C
ENST00000579409.1:c.310T>C
ENST00000582244.1:n.497T>C
XM_005257110.1:c.3074T>C	XP_005257167.1:p.Leu1025Pro
XM_006721737.2:c.1961T>C	XP_006721800.2:p.Leu654Pro
XM_006721737.3:c.1961T>C	XP_006721800.2:p.Leu654Pro