Canonical Allele Identifier: CA400556142

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564019C>G (hg19) ; chr17:g.63486658C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486658C>G , CM000679.2:g.63486658C>G	GRCh38
NC_000017.10:g.61564019C>G , CM000679.1:g.61564019C>G	GRCh37
NC_000017.9:g.58917751C>G	NCBI36
NG_011648.1:g.14586C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2160C>G MANE Select	ENSP00000290866.4:p.Ile720Met
ENST00000290863.10:c.438C>G	ENSP00000290863.6:p.Ile146Met
ENST00000290866.9:c.2160C>G	ENSP00000290866.4:p.Ile720Met
ENST00000413513.7:c.438C>G	ENSP00000392247.3:p.Ile146Met
ENST00000428043.5:c.2160C>G	ENSP00000397593.2:p.Ile720Met
ENST00000577647.2:c.438C>G	ENSP00000464149.1:p.Ile146Met
ENST00000578839.5:c.*230C>G	ENSP00000462110.2:n.*230C>G
ENST00000579204.1:c.341C>G	ENSP00000464629.1:n.341C>G
ENST00000579314.5:c.438C>G	ENSP00000462599.1:p.Ile146Met
ENST00000579726.5:c.722C>G
ENST00000582005.5:c.*80C>G	ENSP00000462002.1:n.*80C>G
NM_000789.3:c.2160C>G	NP_000780.1:p.Ile720Met
NM_001178057.1:c.438C>G	NP_001171528.1:p.Ile146Met
NM_152830.2:c.438C>G	NP_690043.1:p.Ile146Met
XM_005257110.1:c.1611C>G	XP_005257167.1:p.Ile537Met
XM_006721737.2:c.498C>G	XP_006721800.2:p.Ile166Met
XM_006721737.3:c.498C>G	XP_006721800.2:p.Ile166Met
NM_000789.4:c.2160C>G MANE Select	NP_000780.1:p.Ile720Met
NM_001178057.2:c.438C>G	NP_001171528.1:p.Ile146Met
NM_152830.3:c.438C>G	NP_690043.1:p.Ile146Met
NM_001382700.1:c.1593C>G	NP_001369629.1:p.Ile531Met
NM_001382701.1:c.1308C>G	NP_001369630.1:p.Ile436Met
NM_001382702.1:c.90C>G	NP_001369631.1:p.Ile30Met
NR_168483.1:n.460C>G