Canonical Allele Identifier: CA400558080

Gene: ACE

Linked Data

• gnomAD v4: 17-63488785-C-G
• MyVariant Identifiers: chr17:g.61566146C>G (hg19) ; chr17:g.63488785C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488785C>G , CM000679.2:g.63488785C>G	GRCh38
NC_000017.10:g.61566146C>G , CM000679.1:g.61566146C>G	GRCh37
NC_000017.9:g.58919878C>G	NCBI36
NG_011648.1:g.16713C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2443C>G MANE Select	ENSP00000290866.4:p.Leu815Val
ENST00000290863.10:c.721C>G	ENSP00000290863.6:p.Leu241Val
ENST00000290866.9:c.2443C>G	ENSP00000290866.4:p.Leu815Val
ENST00000413513.7:c.721C>G	ENSP00000392247.3:p.Leu241Val
ENST00000428043.5:c.2443C>G	ENSP00000397593.2:p.Leu815Val
ENST00000577647.2:c.721C>G	ENSP00000464149.1:p.Leu241Val
ENST00000578839.5:c.*513C>G	ENSP00000462110.2:n.*513C>G
ENST00000579204.1:c.702C>G	ENSP00000464629.1:n.702C>G
ENST00000579314.5:c.*172C>G	ENSP00000462599.1:n.*172C>G
ENST00000582005.5:c.*363C>G	ENSP00000462002.1:n.*363C>G
ENST00000582761.1:c.211C>G	ENSP00000462909.1:p.Leu71Val
ENST00000584865.5:n.389C>G
NM_000789.3:c.2443C>G	NP_000780.1:p.Leu815Val
NM_001178057.1:c.721C>G	NP_001171528.1:p.Leu241Val
NM_152830.2:c.721C>G	NP_690043.1:p.Leu241Val
XM_005257110.1:c.1894C>G	XP_005257167.1:p.Leu632Val
XM_006721737.2:c.781C>G	XP_006721800.2:p.Leu261Val
XM_006721737.3:c.781C>G	XP_006721800.2:p.Leu261Val
NM_000789.4:c.2443C>G MANE Select	NP_000780.1:p.Leu815Val
NM_001178057.2:c.721C>G	NP_001171528.1:p.Leu241Val
NM_152830.3:c.721C>G	NP_690043.1:p.Leu241Val
NM_001382700.1:c.1876C>G	NP_001369629.1:p.Leu626Val
NM_001382701.1:c.1591C>G	NP_001369630.1:p.Leu531Val
NM_001382702.1:c.373C>G	NP_001369631.1:p.Leu125Val
NR_168483.1:n.821C>G