Canonical Allele Identifier: CA400568990

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574617G>C (hg19) ; chr17:g.63497256G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497256G>C , CM000679.2:g.63497256G>C	GRCh38
NC_000017.10:g.61574617G>C , CM000679.1:g.61574617G>C	GRCh37
NC_000017.9:g.58928349G>C	NCBI36
NG_011648.1:g.25184G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3811G>C MANE Select	ENSP00000290866.4:p.Val1271Leu
ENST00000290863.10:c.2089G>C	ENSP00000290863.6:p.Val697Leu
ENST00000290866.9:c.3811G>C	ENSP00000290866.4:p.Val1271Leu
ENST00000413513.7:c.1966G>C	ENSP00000392247.3:p.Val656Leu
ENST00000428043.5:c.*233G>C	ENSP00000397593.2:n.*233G>C
ENST00000577647.2:c.1969+271G>C	ENSP00000464149.1:n.1969+271G>C
ENST00000578839.5:c.*1566G>C	ENSP00000462110.2:n.*1566G>C
ENST00000579314.5:c.*1540G>C	ENSP00000462599.1:n.*1540G>C
NM_000789.3:c.3811G>C	NP_000780.1:p.Val1271Leu
NM_001178057.1:c.1966G>C	NP_001171528.1:p.Val656Leu
NM_152830.2:c.2089G>C	NP_690043.1:p.Val697Leu
XM_005257110.1:c.3262G>C	XP_005257167.1:p.Val1088Leu
XM_006721737.2:c.2149G>C	XP_006721800.2:p.Val717Leu
XM_006721737.3:c.2149G>C	XP_006721800.2:p.Val717Leu
NM_000789.4:c.3811G>C MANE Select	NP_000780.1:p.Val1271Leu
NM_001178057.2:c.1966G>C	NP_001171528.1:p.Val656Leu
NM_152830.3:c.2089G>C	NP_690043.1:p.Val697Leu
NM_001382700.1:c.3244G>C	NP_001369629.1:p.Val1082Leu
NM_001382701.1:c.2959G>C	NP_001369630.1:p.Val987Leu
NM_001382702.1:c.1426G>C	NP_001369631.1:p.Val476Leu
NR_168483.1:n.2189G>C