Canonical Allele Identifier: CA8700540

Gene: ACE

Linked Data

• dbSNP Id: rs776634959
• ExAC: 17:61574166 A / C
• gnomAD v2: 17-61574166-A-C
• gnomAD v4: 17-63496805-A-C
• MyVariant Identifiers: chr17:g.61574166A>C (hg19) ; chr17:g.63496805A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496805A>C , CM000679.2:g.63496805A>C	GRCh38
NC_000017.10:g.61574166A>C , CM000679.1:g.61574166A>C	GRCh37
NC_000017.9:g.58927898A>C	NCBI36
NG_011648.1:g.24733A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3511A>C MANE Select	ENSP00000290866.4:p.Met1171Leu
ENST00000290863.10:c.1789A>C	ENSP00000290863.6:p.Met597Leu
ENST00000290866.9:c.3511A>C	ENSP00000290866.4:p.Met1171Leu
ENST00000413513.7:c.1666A>C	ENSP00000392247.3:p.Met556Leu
ENST00000428043.5:c.3511A>C	ENSP00000397593.2:p.Met1171Leu
ENST00000577418.5:n.521A>C
ENST00000577647.2:c.1789A>C	ENSP00000464149.1:p.Met597Leu
ENST00000578839.5:c.*1266A>C	ENSP00000462110.2:n.*1266A>C
ENST00000579314.5:c.*1240A>C	ENSP00000462599.1:n.*1240A>C
ENST00000579409.1:c.198A>C
ENST00000582244.1:n.385A>C
NM_000789.3:c.3511A>C	NP_000780.1:p.Met1171Leu
NM_001178057.1:c.1666A>C	NP_001171528.1:p.Met556Leu
NM_152830.2:c.1789A>C	NP_690043.1:p.Met597Leu
XM_005257110.1:c.2962A>C	XP_005257167.1:p.Met988Leu
XM_006721737.2:c.1849A>C	XP_006721800.2:p.Met617Leu
XM_006721737.3:c.1849A>C	XP_006721800.2:p.Met617Leu
NM_000789.4:c.3511A>C MANE Select	NP_000780.1:p.Met1171Leu
NM_001178057.2:c.1666A>C	NP_001171528.1:p.Met556Leu
NM_152830.3:c.1789A>C	NP_690043.1:p.Met597Leu
NM_001382700.1:c.2944A>C	NP_001369629.1:p.Met982Leu
NM_001382701.1:c.2659A>C	NP_001369630.1:p.Met887Leu
NM_001382702.1:c.1126A>C	NP_001369631.1:p.Met376Leu
NR_168483.1:n.1889A>C