Canonical Allele Identifier: CA400567566

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574295C>G (hg19) ; chr17:g.63496934C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496934C>G , CM000679.2:g.63496934C>G	GRCh38
NC_000017.10:g.61574295C>G , CM000679.1:g.61574295C>G	GRCh37
NC_000017.9:g.58928027C>G	NCBI36
NG_011648.1:g.24862C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3640C>G MANE Select	ENSP00000290866.4:p.Leu1214Val
ENST00000290863.10:c.1918C>G	ENSP00000290863.6:p.Leu640Val
ENST00000290866.9:c.3640C>G	ENSP00000290866.4:p.Leu1214Val
ENST00000413513.7:c.1795C>G	ENSP00000392247.3:p.Leu599Val
ENST00000428043.5:c.3640C>G	ENSP00000397593.2:p.Leu1214Val
ENST00000577418.5:n.650C>G
ENST00000577647.2:c.1918C>G	ENSP00000464149.1:p.Leu640Val
ENST00000578839.5:c.*1395C>G	ENSP00000462110.2:n.*1395C>G
ENST00000579314.5:c.*1369C>G	ENSP00000462599.1:n.*1369C>G
ENST00000579409.1:c.327C>G
ENST00000582244.1:n.514C>G
NM_000789.3:c.3640C>G	NP_000780.1:p.Leu1214Val
NM_001178057.1:c.1795C>G	NP_001171528.1:p.Leu599Val
NM_152830.2:c.1918C>G	NP_690043.1:p.Leu640Val
XM_005257110.1:c.3091C>G	XP_005257167.1:p.Leu1031Val
XM_006721737.2:c.1978C>G	XP_006721800.2:p.Leu660Val
XM_006721737.3:c.1978C>G	XP_006721800.2:p.Leu660Val
NM_000789.4:c.3640C>G MANE Select	NP_000780.1:p.Leu1214Val
NM_001178057.2:c.1795C>G	NP_001171528.1:p.Leu599Val
NM_152830.3:c.1918C>G	NP_690043.1:p.Leu640Val
NM_001382700.1:c.3073C>G	NP_001369629.1:p.Leu1025Val
NM_001382701.1:c.2788C>G	NP_001369630.1:p.Leu930Val
NM_001382702.1:c.1255C>G	NP_001369631.1:p.Leu419Val
NR_168483.1:n.2018C>G