Canonical Allele Identifier: CA400558384

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566380A>T (hg19) ; chr17:g.63489019A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489019A>T , CM000679.2:g.63489019A>T	GRCh38
NC_000017.10:g.61566380A>T , CM000679.1:g.61566380A>T	GRCh37
NC_000017.9:g.58920112A>T	NCBI36
NG_011648.1:g.16947A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2528A>T MANE Select	ENSP00000290866.4:p.Gln843Leu
ENST00000290863.10:c.806A>T	ENSP00000290863.6:p.Gln269Leu
ENST00000290866.9:c.2528A>T	ENSP00000290866.4:p.Gln843Leu
ENST00000413513.7:c.806A>T	ENSP00000392247.3:p.Gln269Leu
ENST00000428043.5:c.2528A>T	ENSP00000397593.2:p.Gln843Leu
ENST00000577647.2:c.806A>T	ENSP00000464149.1:p.Gln269Leu
ENST00000578839.5:c.*519+228A>T	ENSP00000462110.2:n.*519+228A>T
ENST00000579204.1:c.787A>T	ENSP00000464629.1:n.787A>T
ENST00000579314.5:c.*257A>T	ENSP00000462599.1:n.*257A>T
ENST00000582005.5:c.*448A>T	ENSP00000462002.1:n.*448A>T
ENST00000582761.1:c.296A>T	ENSP00000462909.1:p.Gln99Leu
ENST00000584865.5:n.474A>T
NM_000789.3:c.2528A>T	NP_000780.1:p.Gln843Leu
NM_001178057.1:c.806A>T	NP_001171528.1:p.Gln269Leu
NM_152830.2:c.806A>T	NP_690043.1:p.Gln269Leu
XM_005257110.1:c.1979A>T	XP_005257167.1:p.Gln660Leu
XM_006721737.2:c.866A>T	XP_006721800.2:p.Gln289Leu
XM_006721737.3:c.866A>T	XP_006721800.2:p.Gln289Leu
NM_000789.4:c.2528A>T MANE Select	NP_000780.1:p.Gln843Leu
NM_001178057.2:c.806A>T	NP_001171528.1:p.Gln269Leu
NM_152830.3:c.806A>T	NP_690043.1:p.Gln269Leu
NM_001382700.1:c.1961A>T	NP_001369629.1:p.Gln654Leu
NM_001382701.1:c.1676A>T	NP_001369630.1:p.Gln559Leu
NM_001382702.1:c.379+228A>T	NP_001369631.1:n.379+228A>T
NR_168483.1:n.906A>T