Canonical Allele Identifier: CA400567202

Gene: ACE

Linked Data

• gnomAD v4: 17-63496887-T-G
• MyVariant Identifiers: chr17:g.61574248T>G (hg19) ; chr17:g.63496887T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496887T>G , CM000679.2:g.63496887T>G	GRCh38
NC_000017.10:g.61574248T>G , CM000679.1:g.61574248T>G	GRCh37
NC_000017.9:g.58927980T>G	NCBI36
NG_011648.1:g.24815T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3593T>G MANE Select	ENSP00000290866.4:p.Leu1198Trp
ENST00000290863.10:c.1871T>G	ENSP00000290863.6:p.Leu624Trp
ENST00000290866.9:c.3593T>G	ENSP00000290866.4:p.Leu1198Trp
ENST00000413513.7:c.1748T>G	ENSP00000392247.3:p.Leu583Trp
ENST00000428043.5:c.3593T>G	ENSP00000397593.2:p.Leu1198Trp
ENST00000577418.5:n.603T>G
ENST00000577647.2:c.1871T>G	ENSP00000464149.1:p.Leu624Trp
ENST00000578839.5:c.*1348T>G	ENSP00000462110.2:n.*1348T>G
ENST00000579314.5:c.*1322T>G	ENSP00000462599.1:n.*1322T>G
ENST00000579409.1:c.280T>G
ENST00000582244.1:n.467T>G
NM_000789.3:c.3593T>G	NP_000780.1:p.Leu1198Trp
NM_001178057.1:c.1748T>G	NP_001171528.1:p.Leu583Trp
NM_152830.2:c.1871T>G	NP_690043.1:p.Leu624Trp
XM_005257110.1:c.3044T>G	XP_005257167.1:p.Leu1015Trp
XM_006721737.2:c.1931T>G	XP_006721800.2:p.Leu644Trp
XM_006721737.3:c.1931T>G	XP_006721800.2:p.Leu644Trp
NM_000789.4:c.3593T>G MANE Select	NP_000780.1:p.Leu1198Trp
NM_001178057.2:c.1748T>G	NP_001171528.1:p.Leu583Trp
NM_152830.3:c.1871T>G	NP_690043.1:p.Leu624Trp
NM_001382700.1:c.3026T>G	NP_001369629.1:p.Leu1009Trp
NM_001382701.1:c.2741T>G	NP_001369630.1:p.Leu914Trp
NM_001382702.1:c.1208T>G	NP_001369631.1:p.Leu403Trp
NR_168483.1:n.1971T>G