Canonical Allele Identifier: CA400569244

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574655C>G (hg19) ; chr17:g.63497294C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497294C>G , CM000679.2:g.63497294C>G	GRCh38
NC_000017.10:g.61574655C>G , CM000679.1:g.61574655C>G	GRCh37
NC_000017.9:g.58928387C>G	NCBI36
NG_011648.1:g.25222C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3849C>G MANE Select	ENSP00000290866.4:p.Ile1283Met
ENST00000290863.10:c.2127C>G	ENSP00000290863.6:p.Ile709Met
ENST00000290866.9:c.3849C>G	ENSP00000290866.4:p.Ile1283Met
ENST00000413513.7:c.2004C>G	ENSP00000392247.3:p.Ile668Met
ENST00000428043.5:c.*271C>G	ENSP00000397593.2:n.*271C>G
ENST00000577647.2:c.1969+309C>G	ENSP00000464149.1:n.1969+309C>G
ENST00000578839.5:c.*1604C>G	ENSP00000462110.2:n.*1604C>G
ENST00000579314.5:c.*1578C>G	ENSP00000462599.1:n.*1578C>G
NM_000789.3:c.3849C>G	NP_000780.1:p.Ile1283Met
NM_001178057.1:c.2004C>G	NP_001171528.1:p.Ile668Met
NM_152830.2:c.2127C>G	NP_690043.1:p.Ile709Met
XM_005257110.1:c.3300C>G	XP_005257167.1:p.Ile1100Met
XM_006721737.2:c.2187C>G	XP_006721800.2:p.Ile729Met
XM_006721737.3:c.2187C>G	XP_006721800.2:p.Ile729Met
NM_000789.4:c.3849C>G MANE Select	NP_000780.1:p.Ile1283Met
NM_001178057.2:c.2004C>G	NP_001171528.1:p.Ile668Met
NM_152830.3:c.2127C>G	NP_690043.1:p.Ile709Met
NM_001382700.1:c.3282C>G	NP_001369629.1:p.Ile1094Met
NM_001382701.1:c.2997C>G	NP_001369630.1:p.Ile999Met
NM_001382702.1:c.1464C>G	NP_001369631.1:p.Ile488Met
NR_168483.1:n.2227C>G