Canonical Allele Identifier: CA400566790

Gene: ACE

Linked Data

• gnomAD v4: 17-63496841-A-C
• MyVariant Identifiers: chr17:g.61574202A>C (hg19) ; chr17:g.63496841A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496841A>C , CM000679.2:g.63496841A>C	GRCh38
NC_000017.10:g.61574202A>C , CM000679.1:g.61574202A>C	GRCh37
NC_000017.9:g.58927934A>C	NCBI36
NG_011648.1:g.24769A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3547A>C MANE Select	ENSP00000290866.4:p.Met1183Leu
ENST00000290863.10:c.1825A>C	ENSP00000290863.6:p.Met609Leu
ENST00000290866.9:c.3547A>C	ENSP00000290866.4:p.Met1183Leu
ENST00000413513.7:c.1702A>C	ENSP00000392247.3:p.Met568Leu
ENST00000428043.5:c.3547A>C	ENSP00000397593.2:p.Met1183Leu
ENST00000577418.5:n.557A>C
ENST00000577647.2:c.1825A>C	ENSP00000464149.1:p.Met609Leu
ENST00000578839.5:c.*1302A>C	ENSP00000462110.2:n.*1302A>C
ENST00000579314.5:c.*1276A>C	ENSP00000462599.1:n.*1276A>C
ENST00000579409.1:c.234A>C
ENST00000582244.1:n.421A>C
NM_000789.3:c.3547A>C	NP_000780.1:p.Met1183Leu
NM_001178057.1:c.1702A>C	NP_001171528.1:p.Met568Leu
NM_152830.2:c.1825A>C	NP_690043.1:p.Met609Leu
XM_005257110.1:c.2998A>C	XP_005257167.1:p.Met1000Leu
XM_006721737.2:c.1885A>C	XP_006721800.2:p.Met629Leu
XM_006721737.3:c.1885A>C	XP_006721800.2:p.Met629Leu
NM_000789.4:c.3547A>C MANE Select	NP_000780.1:p.Met1183Leu
NM_001178057.2:c.1702A>C	NP_001171528.1:p.Met568Leu
NM_152830.3:c.1825A>C	NP_690043.1:p.Met609Leu
NM_001382700.1:c.2980A>C	NP_001369629.1:p.Met994Leu
NM_001382701.1:c.2695A>C	NP_001369630.1:p.Met899Leu
NM_001382702.1:c.1162A>C	NP_001369631.1:p.Met388Leu
NR_168483.1:n.1925A>C