Canonical Allele Identifier: CA400569412

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574669T>G (hg19) ; chr17:g.63497308T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497308T>G , CM000679.2:g.63497308T>G	GRCh38
NC_000017.10:g.61574669T>G , CM000679.1:g.61574669T>G	GRCh37
NC_000017.9:g.58928401T>G	NCBI36
NG_011648.1:g.25236T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3863T>G MANE Select	ENSP00000290866.4:p.Leu1288Arg
ENST00000290863.10:c.2141T>G	ENSP00000290863.6:p.Leu714Arg
ENST00000290866.9:c.3863T>G	ENSP00000290866.4:p.Leu1288Arg
ENST00000413513.7:c.2018T>G	ENSP00000392247.3:p.Leu673Arg
ENST00000428043.5:c.*285T>G	ENSP00000397593.2:n.*285T>G
ENST00000577647.2:c.1969+323T>G	ENSP00000464149.1:n.1969+323T>G
ENST00000578839.5:c.*1618T>G	ENSP00000462110.2:n.*1618T>G
ENST00000579314.5:c.*1592T>G	ENSP00000462599.1:n.*1592T>G
NM_000789.3:c.3863T>G	NP_000780.1:p.Leu1288Arg
NM_001178057.1:c.2018T>G	NP_001171528.1:p.Leu673Arg
NM_152830.2:c.2141T>G	NP_690043.1:p.Leu714Arg
XM_005257110.1:c.3314T>G	XP_005257167.1:p.Leu1105Arg
XM_006721737.2:c.2201T>G	XP_006721800.2:p.Leu734Arg
XM_006721737.3:c.2201T>G	XP_006721800.2:p.Leu734Arg
NM_000789.4:c.3863T>G MANE Select	NP_000780.1:p.Leu1288Arg
NM_001178057.2:c.2018T>G	NP_001171528.1:p.Leu673Arg
NM_152830.3:c.2141T>G	NP_690043.1:p.Leu714Arg
NM_001382700.1:c.3296T>G	NP_001369629.1:p.Leu1099Arg
NM_001382701.1:c.3011T>G	NP_001369630.1:p.Leu1004Arg
NM_001382702.1:c.1478T>G	NP_001369631.1:p.Leu493Arg
NR_168483.1:n.2241T>G