Canonical Allele Identifier: CA400556942

Gene: ACE

Linked Data

• gnomAD v4: 17-63487064-C-G
• MyVariant Identifiers: chr17:g.61564425C>G (hg19) ; chr17:g.63487064C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487064C>G , CM000679.2:g.63487064C>G	GRCh38
NC_000017.10:g.61564425C>G , CM000679.1:g.61564425C>G	GRCh37
NC_000017.9:g.58918157C>G	NCBI36
NG_011648.1:g.14992C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2296C>G MANE Select	ENSP00000290866.4:p.Leu766Val
ENST00000290863.10:c.574C>G	ENSP00000290863.6:p.Leu192Val
ENST00000290866.9:c.2296C>G	ENSP00000290866.4:p.Leu766Val
ENST00000413513.7:c.574C>G	ENSP00000392247.3:p.Leu192Val
ENST00000428043.5:c.2296C>G	ENSP00000397593.2:p.Leu766Val
ENST00000577647.2:c.574C>G	ENSP00000464149.1:p.Leu192Val
ENST00000578839.5:c.*366C>G	ENSP00000462110.2:n.*366C>G
ENST00000579204.1:c.477C>G	ENSP00000464629.1:n.477C>G
ENST00000579314.5:c.574C>G	ENSP00000462599.1:p.Leu192Val
ENST00000579726.5:c.858C>G
ENST00000582005.5:c.*216C>G	ENSP00000462002.1:n.*216C>G
ENST00000582761.1:c.64C>G	ENSP00000462909.1:p.Leu22Val
ENST00000584865.5:n.242C>G
NM_000789.3:c.2296C>G	NP_000780.1:p.Leu766Val
NM_001178057.1:c.574C>G	NP_001171528.1:p.Leu192Val
NM_152830.2:c.574C>G	NP_690043.1:p.Leu192Val
XM_005257110.1:c.1747C>G	XP_005257167.1:p.Leu583Val
XM_006721737.2:c.634C>G	XP_006721800.2:p.Leu212Val
XM_006721737.3:c.634C>G	XP_006721800.2:p.Leu212Val
NM_000789.4:c.2296C>G MANE Select	NP_000780.1:p.Leu766Val
NM_001178057.2:c.574C>G	NP_001171528.1:p.Leu192Val
NM_152830.3:c.574C>G	NP_690043.1:p.Leu192Val
NM_001382700.1:c.1729C>G	NP_001369629.1:p.Leu577Val
NM_001382701.1:c.1444C>G	NP_001369630.1:p.Leu482Val
NM_001382702.1:c.226C>G	NP_001369631.1:p.Leu76Val
NR_168483.1:n.596C>G