Canonical Allele Identifier: CA400556011

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61563994T>G (hg19) ; chr17:g.63486633T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486633T>G , CM000679.2:g.63486633T>G	GRCh38
NC_000017.10:g.61563994T>G , CM000679.1:g.61563994T>G	GRCh37
NC_000017.9:g.58917726T>G	NCBI36
NG_011648.1:g.14561T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2135T>G MANE Select	ENSP00000290866.4:p.Leu712Trp
ENST00000290863.10:c.413T>G	ENSP00000290863.6:p.Leu138Trp
ENST00000290866.9:c.2135T>G	ENSP00000290866.4:p.Leu712Trp
ENST00000413513.7:c.413T>G	ENSP00000392247.3:p.Leu138Trp
ENST00000428043.5:c.2135T>G	ENSP00000397593.2:p.Leu712Trp
ENST00000577647.2:c.413T>G	ENSP00000464149.1:p.Leu138Trp
ENST00000578839.5:c.*205T>G	ENSP00000462110.2:n.*205T>G
ENST00000579204.1:c.316T>G	ENSP00000464629.1:n.316T>G
ENST00000579314.5:c.413T>G	ENSP00000462599.1:p.Leu138Trp
ENST00000579726.5:c.697T>G
ENST00000582005.5:c.*55T>G	ENSP00000462002.1:n.*55T>G
NM_000789.3:c.2135T>G	NP_000780.1:p.Leu712Trp
NM_001178057.1:c.413T>G	NP_001171528.1:p.Leu138Trp
NM_152830.2:c.413T>G	NP_690043.1:p.Leu138Trp
XM_005257110.1:c.1586T>G	XP_005257167.1:p.Leu529Trp
XM_006721737.2:c.473T>G	XP_006721800.2:p.Leu158Trp
XM_006721737.3:c.473T>G	XP_006721800.2:p.Leu158Trp
NM_000789.4:c.2135T>G MANE Select	NP_000780.1:p.Leu712Trp
NM_001178057.2:c.413T>G	NP_001171528.1:p.Leu138Trp
NM_152830.3:c.413T>G	NP_690043.1:p.Leu138Trp
NM_001382700.1:c.1568T>G	NP_001369629.1:p.Leu523Trp
NM_001382701.1:c.1283T>G	NP_001369630.1:p.Leu428Trp
NM_001382702.1:c.65T>G	NP_001369631.1:p.Leu22Trp
NR_168483.1:n.435T>G