Canonical Allele Identifier: CA400558542

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566407T>A (hg19) ; chr17:g.63489046T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489046T>A , CM000679.2:g.63489046T>A	GRCh38
NC_000017.10:g.61566407T>A , CM000679.1:g.61566407T>A	GRCh37
NC_000017.9:g.58920139T>A	NCBI36
NG_011648.1:g.16974T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2555T>A MANE Select	ENSP00000290866.4:p.Leu852Gln
ENST00000290863.10:c.833T>A	ENSP00000290863.6:p.Leu278Gln
ENST00000290866.9:c.2555T>A	ENSP00000290866.4:p.Leu852Gln
ENST00000413513.7:c.833T>A	ENSP00000392247.3:p.Leu278Gln
ENST00000428043.5:c.2555T>A	ENSP00000397593.2:p.Leu852Gln
ENST00000577647.2:c.833T>A	ENSP00000464149.1:p.Leu278Gln
ENST00000578839.5:c.*519+255T>A	ENSP00000462110.2:n.*519+255T>A
ENST00000579314.5:c.*284T>A	ENSP00000462599.1:n.*284T>A
ENST00000582005.5:c.*475T>A	ENSP00000462002.1:n.*475T>A
ENST00000582761.1:c.323T>A	ENSP00000462909.1:p.Leu108Gln
ENST00000584865.5:n.501T>A
NM_000789.3:c.2555T>A	NP_000780.1:p.Leu852Gln
NM_001178057.1:c.833T>A	NP_001171528.1:p.Leu278Gln
NM_152830.2:c.833T>A	NP_690043.1:p.Leu278Gln
XM_005257110.1:c.2006T>A	XP_005257167.1:p.Leu669Gln
XM_006721737.2:c.893T>A	XP_006721800.2:p.Leu298Gln
XM_006721737.3:c.893T>A	XP_006721800.2:p.Leu298Gln
NM_000789.4:c.2555T>A MANE Select	NP_000780.1:p.Leu852Gln
NM_001178057.2:c.833T>A	NP_001171528.1:p.Leu278Gln
NM_152830.3:c.833T>A	NP_690043.1:p.Leu278Gln
NM_001382700.1:c.1988T>A	NP_001369629.1:p.Leu663Gln
NM_001382701.1:c.1703T>A	NP_001369630.1:p.Leu568Gln
NM_001382702.1:c.379+255T>A	NP_001369631.1:n.379+255T>A
NR_168483.1:n.933T>A