Canonical Allele Identifier: CA400556941

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564425C>A (hg19) ; chr17:g.63487064C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487064C>A , CM000679.2:g.63487064C>A	GRCh38
NC_000017.10:g.61564425C>A , CM000679.1:g.61564425C>A	GRCh37
NC_000017.9:g.58918157C>A	NCBI36
NG_011648.1:g.14992C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2296C>A MANE Select	ENSP00000290866.4:p.Leu766Ile
ENST00000290863.10:c.574C>A	ENSP00000290863.6:p.Leu192Ile
ENST00000290866.9:c.2296C>A	ENSP00000290866.4:p.Leu766Ile
ENST00000413513.7:c.574C>A	ENSP00000392247.3:p.Leu192Ile
ENST00000428043.5:c.2296C>A	ENSP00000397593.2:p.Leu766Ile
ENST00000577647.2:c.574C>A	ENSP00000464149.1:p.Leu192Ile
ENST00000578839.5:c.*366C>A	ENSP00000462110.2:n.*366C>A
ENST00000579204.1:c.477C>A	ENSP00000464629.1:n.477C>A
ENST00000579314.5:c.574C>A	ENSP00000462599.1:p.Leu192Ile
ENST00000579726.5:c.858C>A
ENST00000582005.5:c.*216C>A	ENSP00000462002.1:n.*216C>A
ENST00000582761.1:c.64C>A	ENSP00000462909.1:p.Leu22Ile
ENST00000584865.5:n.242C>A
NM_000789.3:c.2296C>A	NP_000780.1:p.Leu766Ile
NM_001178057.1:c.574C>A	NP_001171528.1:p.Leu192Ile
NM_152830.2:c.574C>A	NP_690043.1:p.Leu192Ile
XM_005257110.1:c.1747C>A	XP_005257167.1:p.Leu583Ile
XM_006721737.2:c.634C>A	XP_006721800.2:p.Leu212Ile
XM_006721737.3:c.634C>A	XP_006721800.2:p.Leu212Ile
NM_000789.4:c.2296C>A MANE Select	NP_000780.1:p.Leu766Ile
NM_001178057.2:c.574C>A	NP_001171528.1:p.Leu192Ile
NM_152830.3:c.574C>A	NP_690043.1:p.Leu192Ile
NM_001382700.1:c.1729C>A	NP_001369629.1:p.Leu577Ile
NM_001382701.1:c.1444C>A	NP_001369630.1:p.Leu482Ile
NM_001382702.1:c.226C>A	NP_001369631.1:p.Leu76Ile
NR_168483.1:n.596C>A