Canonical Allele Identifier: CA501186670

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566013G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488652G>T , CM000679.2:g.63488652G>T	GRCh38
NC_000017.10:g.61566013G>T , CM000679.1:g.61566013G>T	GRCh37
NC_000017.9:g.58919745G>T	NCBI36
NG_011648.1:g.16580G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2310G>T MANE Select	ENSP00000290866.4:p.Leu770=
ENST00000290863.10:c.588G>T	ENSP00000290863.6:p.Leu196=
ENST00000290866.9:c.2310G>T	ENSP00000290866.4:p.Leu770=
ENST00000413513.7:c.588G>T	ENSP00000392247.3:p.Leu196=
ENST00000428043.5:c.2310G>T	ENSP00000397593.2:p.Leu770=
ENST00000577647.2:c.588G>T	ENSP00000464149.1:p.Leu196=
ENST00000578839.5:c.*380G>T	ENSP00000462110.2:n.*380G>T
ENST00000579204.1:c.569G>T	ENSP00000464629.1:n.569G>T
ENST00000579314.5:c.*39G>T	ENSP00000462599.1:n.*39G>T
ENST00000582005.5:c.*230G>T	ENSP00000462002.1:n.*230G>T
ENST00000582761.1:c.78G>T	ENSP00000462909.1:p.Leu26=
ENST00000584865.5:n.256G>T
NM_000789.3:c.2310G>T	NP_000780.1:p.Leu770=
NM_001178057.1:c.588G>T	NP_001171528.1:p.Leu196=
NM_152830.2:c.588G>T	NP_690043.1:p.Leu196=
XM_005257110.1:c.1761G>T	XP_005257167.1:p.Leu587=
XM_006721737.2:c.648G>T	XP_006721800.2:p.Leu216=
XM_006721737.3:c.648G>T	XP_006721800.2:p.Leu216=
NM_000789.4:c.2310G>T MANE Select	NP_000780.1:p.Leu770=
NM_001178057.2:c.588G>T	NP_001171528.1:p.Leu196=
NM_152830.3:c.588G>T	NP_690043.1:p.Leu196=
NM_001382700.1:c.1743G>T	NP_001369629.1:p.Leu581=
NM_001382701.1:c.1458G>T	NP_001369630.1:p.Leu486=
NM_001382702.1:c.240G>T	NP_001369631.1:p.Leu80=
NR_168483.1:n.688G>T