Canonical Allele Identifier: CA400567283

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574256T>G (hg19) ; chr17:g.63496895T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496895T>G , CM000679.2:g.63496895T>G	GRCh38
NC_000017.10:g.61574256T>G , CM000679.1:g.61574256T>G	GRCh37
NC_000017.9:g.58927988T>G	NCBI36
NG_011648.1:g.24823T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3601T>G MANE Select	ENSP00000290866.4:p.Phe1201Val
ENST00000290863.10:c.1879T>G	ENSP00000290863.6:p.Phe627Val
ENST00000290866.9:c.3601T>G	ENSP00000290866.4:p.Phe1201Val
ENST00000413513.7:c.1756T>G	ENSP00000392247.3:p.Phe586Val
ENST00000428043.5:c.3601T>G	ENSP00000397593.2:p.Phe1201Val
ENST00000577418.5:n.611T>G
ENST00000577647.2:c.1879T>G	ENSP00000464149.1:p.Phe627Val
ENST00000578839.5:c.*1356T>G	ENSP00000462110.2:n.*1356T>G
ENST00000579314.5:c.*1330T>G	ENSP00000462599.1:n.*1330T>G
ENST00000579409.1:c.288T>G
ENST00000582244.1:n.475T>G
NM_000789.3:c.3601T>G	NP_000780.1:p.Phe1201Val
NM_001178057.1:c.1756T>G	NP_001171528.1:p.Phe586Val
NM_152830.2:c.1879T>G	NP_690043.1:p.Phe627Val
XM_005257110.1:c.3052T>G	XP_005257167.1:p.Phe1018Val
XM_006721737.2:c.1939T>G	XP_006721800.2:p.Phe647Val
XM_006721737.3:c.1939T>G	XP_006721800.2:p.Phe647Val
NM_000789.4:c.3601T>G MANE Select	NP_000780.1:p.Phe1201Val
NM_001178057.2:c.1756T>G	NP_001171528.1:p.Phe586Val
NM_152830.3:c.1879T>G	NP_690043.1:p.Phe627Val
NM_001382700.1:c.3034T>G	NP_001369629.1:p.Phe1012Val
NM_001382701.1:c.2749T>G	NP_001369630.1:p.Phe917Val
NM_001382702.1:c.1216T>G	NP_001369631.1:p.Phe406Val
NR_168483.1:n.1979T>G