Canonical Allele Identifier: CA400569148

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574642G>T (hg19) ; chr17:g.63497281G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497281G>T , CM000679.2:g.63497281G>T	GRCh38
NC_000017.10:g.61574642G>T , CM000679.1:g.61574642G>T	GRCh37
NC_000017.9:g.58928374G>T	NCBI36
NG_011648.1:g.25209G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3836G>T MANE Select	ENSP00000290866.4:p.Arg1279Leu
ENST00000290863.10:c.2114G>T	ENSP00000290863.6:p.Arg705Leu
ENST00000290866.9:c.3836G>T	ENSP00000290866.4:p.Arg1279Leu
ENST00000413513.7:c.1991G>T	ENSP00000392247.3:p.Arg664Leu
ENST00000428043.5:c.*258G>T	ENSP00000397593.2:n.*258G>T
ENST00000577647.2:c.1969+296G>T	ENSP00000464149.1:n.1969+296G>T
ENST00000578839.5:c.*1591G>T	ENSP00000462110.2:n.*1591G>T
ENST00000579314.5:c.*1565G>T	ENSP00000462599.1:n.*1565G>T
NM_000789.3:c.3836G>T	NP_000780.1:p.Arg1279Leu
NM_001178057.1:c.1991G>T	NP_001171528.1:p.Arg664Leu
NM_152830.2:c.2114G>T	NP_690043.1:p.Arg705Leu
XM_005257110.1:c.3287G>T	XP_005257167.1:p.Arg1096Leu
XM_006721737.2:c.2174G>T	XP_006721800.2:p.Arg725Leu
XM_006721737.3:c.2174G>T	XP_006721800.2:p.Arg725Leu
NM_000789.4:c.3836G>T MANE Select	NP_000780.1:p.Arg1279Leu
NM_001178057.2:c.1991G>T	NP_001171528.1:p.Arg664Leu
NM_152830.3:c.2114G>T	NP_690043.1:p.Arg705Leu
NM_001382700.1:c.3269G>T	NP_001369629.1:p.Arg1090Leu
NM_001382701.1:c.2984G>T	NP_001369630.1:p.Arg995Leu
NM_001382702.1:c.1451G>T	NP_001369631.1:p.Arg484Leu
NR_168483.1:n.2214G>T