Canonical Allele Identifier: CA400556943

Gene: ACE

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2296C>T MANE Select	ENSP00000290866.4:p.Leu766Phe
ENST00000290863.10:c.574C>T	ENSP00000290863.6:p.Leu192Phe
ENST00000290866.9:c.2296C>T	ENSP00000290866.4:p.Leu766Phe
ENST00000413513.7:c.574C>T	ENSP00000392247.3:p.Leu192Phe
ENST00000428043.5:c.2296C>T	ENSP00000397593.2:p.Leu766Phe
ENST00000577647.2:c.574C>T	ENSP00000464149.1:p.Leu192Phe
ENST00000578839.5:c.*366C>T	ENSP00000462110.2:n.*366C>T
ENST00000579204.1:c.477C>T	ENSP00000464629.1:n.477C>T
ENST00000579314.5:c.574C>T	ENSP00000462599.1:p.Leu192Phe
ENST00000579726.5:c.858C>T
ENST00000582005.5:c.*216C>T	ENSP00000462002.1:n.*216C>T
ENST00000582761.1:c.64C>T	ENSP00000462909.1:p.Leu22Phe
ENST00000584865.5:n.242C>T
NM_000789.3:c.2296C>T	NP_000780.1:p.Leu766Phe
NM_001178057.1:c.574C>T	NP_001171528.1:p.Leu192Phe
NM_152830.2:c.574C>T	NP_690043.1:p.Leu192Phe
XM_005257110.1:c.1747C>T	XP_005257167.1:p.Leu583Phe
XM_006721737.2:c.634C>T	XP_006721800.2:p.Leu212Phe
XM_006721737.3:c.634C>T	XP_006721800.2:p.Leu212Phe
NM_000789.4:c.2296C>T MANE Select	NP_000780.1:p.Leu766Phe
NM_001178057.2:c.574C>T	NP_001171528.1:p.Leu192Phe
NM_152830.3:c.574C>T	NP_690043.1:p.Leu192Phe
NM_001382700.1:c.1729C>T	NP_001369629.1:p.Leu577Phe
NM_001382701.1:c.1444C>T	NP_001369630.1:p.Leu482Phe
NM_001382702.1:c.226C>T	NP_001369631.1:p.Leu76Phe
NR_168483.1:n.596C>T