Canonical Allele Identifier: CA400557908

Gene: ACE

Linked Data

• COSMIC: COSM1181586 ; COSM1181587 ; COSM5002893
• MyVariant Identifiers: chr17:g.61566066A>G (hg19) ; chr17:g.63488705A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488705A>G , CM000679.2:g.63488705A>G	GRCh38
NC_000017.10:g.61566066A>G , CM000679.1:g.61566066A>G	GRCh37
NC_000017.9:g.58919798A>G	NCBI36
NG_011648.1:g.16633A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2363A>G MANE Select	ENSP00000290866.4:p.Glu788Gly
ENST00000290863.10:c.641A>G	ENSP00000290863.6:p.Glu214Gly
ENST00000290866.9:c.2363A>G	ENSP00000290866.4:p.Glu788Gly
ENST00000413513.7:c.641A>G	ENSP00000392247.3:p.Glu214Gly
ENST00000428043.5:c.2363A>G	ENSP00000397593.2:p.Glu788Gly
ENST00000577647.2:c.641A>G	ENSP00000464149.1:p.Glu214Gly
ENST00000578839.5:c.*433A>G	ENSP00000462110.2:n.*433A>G
ENST00000579204.1:c.622A>G	ENSP00000464629.1:n.622A>G
ENST00000579314.5:c.*92A>G	ENSP00000462599.1:n.*92A>G
ENST00000582005.5:c.*283A>G	ENSP00000462002.1:n.*283A>G
ENST00000582761.1:c.131A>G	ENSP00000462909.1:p.Glu44Gly
ENST00000584865.5:n.309A>G
NM_000789.3:c.2363A>G	NP_000780.1:p.Glu788Gly
NM_001178057.1:c.641A>G	NP_001171528.1:p.Glu214Gly
NM_152830.2:c.641A>G	NP_690043.1:p.Glu214Gly
XM_005257110.1:c.1814A>G	XP_005257167.1:p.Glu605Gly
XM_006721737.2:c.701A>G	XP_006721800.2:p.Glu234Gly
XM_006721737.3:c.701A>G	XP_006721800.2:p.Glu234Gly
NM_000789.4:c.2363A>G MANE Select	NP_000780.1:p.Glu788Gly
NM_001178057.2:c.641A>G	NP_001171528.1:p.Glu214Gly
NM_152830.3:c.641A>G	NP_690043.1:p.Glu214Gly
NM_001382700.1:c.1796A>G	NP_001369629.1:p.Glu599Gly
NM_001382701.1:c.1511A>G	NP_001369630.1:p.Glu504Gly
NM_001382702.1:c.293A>G	NP_001369631.1:p.Glu98Gly
NR_168483.1:n.741A>G