Canonical Allele Identifier: CA400568548

Gene: ACE

Linked Data

• gnomAD v4: 17-63497187-C-G
• MyVariant Identifiers: chr17:g.61574548C>G (hg19) ; chr17:g.63497187C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497187C>G , CM000679.2:g.63497187C>G	GRCh38
NC_000017.10:g.61574548C>G , CM000679.1:g.61574548C>G	GRCh37
NC_000017.9:g.58928280C>G	NCBI36
NG_011648.1:g.25115C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3742C>G MANE Select	ENSP00000290866.4:p.Leu1248Val
ENST00000290863.10:c.2020C>G	ENSP00000290863.6:p.Leu674Val
ENST00000290866.9:c.3742C>G	ENSP00000290866.4:p.Leu1248Val
ENST00000413513.7:c.1897C>G	ENSP00000392247.3:p.Leu633Val
ENST00000428043.5:c.*164C>G	ENSP00000397593.2:n.*164C>G
ENST00000577647.2:c.1969+202C>G	ENSP00000464149.1:n.1969+202C>G
ENST00000578839.5:c.*1497C>G	ENSP00000462110.2:n.*1497C>G
ENST00000579314.5:c.*1471C>G	ENSP00000462599.1:n.*1471C>G
NM_000789.3:c.3742C>G	NP_000780.1:p.Leu1248Val
NM_001178057.1:c.1897C>G	NP_001171528.1:p.Leu633Val
NM_152830.2:c.2020C>G	NP_690043.1:p.Leu674Val
XM_005257110.1:c.3193C>G	XP_005257167.1:p.Leu1065Val
XM_006721737.2:c.2080C>G	XP_006721800.2:p.Leu694Val
XM_006721737.3:c.2080C>G	XP_006721800.2:p.Leu694Val
NM_000789.4:c.3742C>G MANE Select	NP_000780.1:p.Leu1248Val
NM_001178057.2:c.1897C>G	NP_001171528.1:p.Leu633Val
NM_152830.3:c.2020C>G	NP_690043.1:p.Leu674Val
NM_001382700.1:c.3175C>G	NP_001369629.1:p.Leu1059Val
NM_001382701.1:c.2890C>G	NP_001369630.1:p.Leu964Val
NM_001382702.1:c.1357C>G	NP_001369631.1:p.Leu453Val
NR_168483.1:n.2120C>G