Canonical Allele Identifier: CA400567377

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574265C>A (hg19) ; chr17:g.63496904C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496904C>A , CM000679.2:g.63496904C>A	GRCh38
NC_000017.10:g.61574265C>A , CM000679.1:g.61574265C>A	GRCh37
NC_000017.9:g.58927997C>A	NCBI36
NG_011648.1:g.24832C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3610C>A MANE Select	ENSP00000290866.4:p.Leu1204Met
ENST00000290863.10:c.1888C>A	ENSP00000290863.6:p.Leu630Met
ENST00000290866.9:c.3610C>A	ENSP00000290866.4:p.Leu1204Met
ENST00000413513.7:c.1765C>A	ENSP00000392247.3:p.Leu589Met
ENST00000428043.5:c.3610C>A	ENSP00000397593.2:p.Leu1204Met
ENST00000577418.5:n.620C>A
ENST00000577647.2:c.1888C>A	ENSP00000464149.1:p.Leu630Met
ENST00000578839.5:c.*1365C>A	ENSP00000462110.2:n.*1365C>A
ENST00000579314.5:c.*1339C>A	ENSP00000462599.1:n.*1339C>A
ENST00000579409.1:c.297C>A
ENST00000582244.1:n.484C>A
NM_000789.3:c.3610C>A	NP_000780.1:p.Leu1204Met
NM_001178057.1:c.1765C>A	NP_001171528.1:p.Leu589Met
NM_152830.2:c.1888C>A	NP_690043.1:p.Leu630Met
XM_005257110.1:c.3061C>A	XP_005257167.1:p.Leu1021Met
XM_006721737.2:c.1948C>A	XP_006721800.2:p.Leu650Met
XM_006721737.3:c.1948C>A	XP_006721800.2:p.Leu650Met
NM_000789.4:c.3610C>A MANE Select	NP_000780.1:p.Leu1204Met
NM_001178057.2:c.1765C>A	NP_001171528.1:p.Leu589Met
NM_152830.3:c.1888C>A	NP_690043.1:p.Leu630Met
NM_001382700.1:c.3043C>A	NP_001369629.1:p.Leu1015Met
NM_001382701.1:c.2758C>A	NP_001369630.1:p.Leu920Met
NM_001382702.1:c.1225C>A	NP_001369631.1:p.Leu409Met
NR_168483.1:n.1988C>A