Canonical Allele Identifier: CA400556066

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564003C>T (hg19) ; chr17:g.63486642C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486642C>T , CM000679.2:g.63486642C>T	GRCh38
NC_000017.10:g.61564003C>T , CM000679.1:g.61564003C>T	GRCh37
NC_000017.9:g.58917735C>T	NCBI36
NG_011648.1:g.14570C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2144C>T MANE Select	ENSP00000290866.4:p.Thr715Ile
ENST00000290863.10:c.422C>T	ENSP00000290863.6:p.Thr141Ile
ENST00000290866.9:c.2144C>T	ENSP00000290866.4:p.Thr715Ile
ENST00000413513.7:c.422C>T	ENSP00000392247.3:p.Thr141Ile
ENST00000428043.5:c.2144C>T	ENSP00000397593.2:p.Thr715Ile
ENST00000577647.2:c.422C>T	ENSP00000464149.1:p.Thr141Ile
ENST00000578839.5:c.*214C>T	ENSP00000462110.2:n.*214C>T
ENST00000579204.1:c.325C>T	ENSP00000464629.1:n.325C>T
ENST00000579314.5:c.422C>T	ENSP00000462599.1:p.Thr141Ile
ENST00000579726.5:c.706C>T
ENST00000582005.5:c.*64C>T	ENSP00000462002.1:n.*64C>T
NM_000789.3:c.2144C>T	NP_000780.1:p.Thr715Ile
NM_001178057.1:c.422C>T	NP_001171528.1:p.Thr141Ile
NM_152830.2:c.422C>T	NP_690043.1:p.Thr141Ile
XM_005257110.1:c.1595C>T	XP_005257167.1:p.Thr532Ile
XM_006721737.2:c.482C>T	XP_006721800.2:p.Thr161Ile
XM_006721737.3:c.482C>T	XP_006721800.2:p.Thr161Ile
NM_000789.4:c.2144C>T MANE Select	NP_000780.1:p.Thr715Ile
NM_001178057.2:c.422C>T	NP_001171528.1:p.Thr141Ile
NM_152830.3:c.422C>T	NP_690043.1:p.Thr141Ile
NM_001382700.1:c.1577C>T	NP_001369629.1:p.Thr526Ile
NM_001382701.1:c.1292C>T	NP_001369630.1:p.Thr431Ile
NM_001382702.1:c.74C>T	NP_001369631.1:p.Thr25Ile
NR_168483.1:n.444C>T