Canonical Allele Identifier: CA8700056

Gene: ACE

Linked Data

• dbSNP Id: rs374146846
• ExAC: 17:61566011 C / G
• gnomAD v2: 17-61566011-C-G
• gnomAD v3: 17-63488650-C-G
• gnomAD v4: 17-63488650-C-G
• MyVariant Identifiers: chr17:g.61566011C>G (hg19) ; chr17:g.63488650C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488650C>G , CM000679.2:g.63488650C>G	GRCh38
NC_000017.10:g.61566011C>G , CM000679.1:g.61566011C>G	GRCh37
NC_000017.9:g.58919743C>G	NCBI36
NG_011648.1:g.16578C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2308C>G MANE Select	ENSP00000290866.4:p.Leu770Val
ENST00000290863.10:c.586C>G	ENSP00000290863.6:p.Leu196Val
ENST00000290866.9:c.2308C>G	ENSP00000290866.4:p.Leu770Val
ENST00000413513.7:c.586C>G	ENSP00000392247.3:p.Leu196Val
ENST00000428043.5:c.2308C>G	ENSP00000397593.2:p.Leu770Val
ENST00000577647.2:c.586C>G	ENSP00000464149.1:p.Leu196Val
ENST00000578839.5:c.*378C>G	ENSP00000462110.2:n.*378C>G
ENST00000579204.1:c.567C>G	ENSP00000464629.1:n.567C>G
ENST00000579314.5:c.*37C>G	ENSP00000462599.1:n.*37C>G
ENST00000582005.5:c.*228C>G	ENSP00000462002.1:n.*228C>G
ENST00000582761.1:c.76C>G	ENSP00000462909.1:p.Leu26Val
ENST00000584865.5:n.254C>G
NM_000789.3:c.2308C>G	NP_000780.1:p.Leu770Val
NM_001178057.1:c.586C>G	NP_001171528.1:p.Leu196Val
NM_152830.2:c.586C>G	NP_690043.1:p.Leu196Val
XM_005257110.1:c.1759C>G	XP_005257167.1:p.Leu587Val
XM_006721737.2:c.646C>G	XP_006721800.2:p.Leu216Val
XM_006721737.3:c.646C>G	XP_006721800.2:p.Leu216Val
NM_000789.4:c.2308C>G MANE Select	NP_000780.1:p.Leu770Val
NM_001178057.2:c.586C>G	NP_001171528.1:p.Leu196Val
NM_152830.3:c.586C>G	NP_690043.1:p.Leu196Val
NM_001382700.1:c.1741C>G	NP_001369629.1:p.Leu581Val
NM_001382701.1:c.1456C>G	NP_001369630.1:p.Leu486Val
NM_001382702.1:c.238C>G	NP_001369631.1:p.Leu80Val
NR_168483.1:n.686C>G