Canonical Allele Identifier: CA501187978

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566364C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489003C>T , CM000679.2:g.63489003C>T	GRCh38
NC_000017.10:g.61566364C>T , CM000679.1:g.61566364C>T	GRCh37
NC_000017.9:g.58920096C>T	NCBI36
NG_011648.1:g.16931C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2512C>T MANE Select	ENSP00000290866.4:p.Leu838=
ENST00000290863.10:c.790C>T	ENSP00000290863.6:p.Leu264=
ENST00000290866.9:c.2512C>T	ENSP00000290866.4:p.Leu838=
ENST00000413513.7:c.790C>T	ENSP00000392247.3:p.Leu264=
ENST00000428043.5:c.2512C>T	ENSP00000397593.2:p.Leu838=
ENST00000577647.2:c.790C>T	ENSP00000464149.1:p.Leu264=
ENST00000578839.5:c.*519+212C>T	ENSP00000462110.2:n.*519+212C>T
ENST00000579204.1:c.771C>T	ENSP00000464629.1:n.771C>T
ENST00000579314.5:c.*241C>T	ENSP00000462599.1:n.*241C>T
ENST00000582005.5:c.*432C>T	ENSP00000462002.1:n.*432C>T
ENST00000582761.1:c.280C>T	ENSP00000462909.1:p.Leu94=
ENST00000584865.5:n.458C>T
NM_000789.3:c.2512C>T	NP_000780.1:p.Leu838=
NM_001178057.1:c.790C>T	NP_001171528.1:p.Leu264=
NM_152830.2:c.790C>T	NP_690043.1:p.Leu264=
XM_005257110.1:c.1963C>T	XP_005257167.1:p.Leu655=
XM_006721737.2:c.850C>T	XP_006721800.2:p.Leu284=
XM_006721737.3:c.850C>T	XP_006721800.2:p.Leu284=
NM_000789.4:c.2512C>T MANE Select	NP_000780.1:p.Leu838=
NM_001178057.2:c.790C>T	NP_001171528.1:p.Leu264=
NM_152830.3:c.790C>T	NP_690043.1:p.Leu264=
NM_001382700.1:c.1945C>T	NP_001369629.1:p.Leu649=
NM_001382701.1:c.1660C>T	NP_001369630.1:p.Leu554=
NM_001382702.1:c.379+212C>T	NP_001369631.1:n.379+212C>T
NR_168483.1:n.890C>T