Canonical Allele Identifier: CA400556025

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61563997A>T (hg19) ; chr17:g.63486636A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486636A>T , CM000679.2:g.63486636A>T	GRCh38
NC_000017.10:g.61563997A>T , CM000679.1:g.61563997A>T	GRCh37
NC_000017.9:g.58917729A>T	NCBI36
NG_011648.1:g.14564A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2138A>T MANE Select	ENSP00000290866.4:p.Gln713Leu
ENST00000290863.10:c.416A>T	ENSP00000290863.6:p.Gln139Leu
ENST00000290866.9:c.2138A>T	ENSP00000290866.4:p.Gln713Leu
ENST00000413513.7:c.416A>T	ENSP00000392247.3:p.Gln139Leu
ENST00000428043.5:c.2138A>T	ENSP00000397593.2:p.Gln713Leu
ENST00000577647.2:c.416A>T	ENSP00000464149.1:p.Gln139Leu
ENST00000578839.5:c.*208A>T	ENSP00000462110.2:n.*208A>T
ENST00000579204.1:c.319A>T	ENSP00000464629.1:n.319A>T
ENST00000579314.5:c.416A>T	ENSP00000462599.1:p.Gln139Leu
ENST00000579726.5:c.700A>T
ENST00000582005.5:c.*58A>T	ENSP00000462002.1:n.*58A>T
NM_000789.3:c.2138A>T	NP_000780.1:p.Gln713Leu
NM_001178057.1:c.416A>T	NP_001171528.1:p.Gln139Leu
NM_152830.2:c.416A>T	NP_690043.1:p.Gln139Leu
XM_005257110.1:c.1589A>T	XP_005257167.1:p.Gln530Leu
XM_006721737.2:c.476A>T	XP_006721800.2:p.Gln159Leu
XM_006721737.3:c.476A>T	XP_006721800.2:p.Gln159Leu
NM_000789.4:c.2138A>T MANE Select	NP_000780.1:p.Gln713Leu
NM_001178057.2:c.416A>T	NP_001171528.1:p.Gln139Leu
NM_152830.3:c.416A>T	NP_690043.1:p.Gln139Leu
NM_001382700.1:c.1571A>T	NP_001369629.1:p.Gln524Leu
NM_001382701.1:c.1286A>T	NP_001369630.1:p.Gln429Leu
NM_001382702.1:c.68A>T	NP_001369631.1:p.Gln23Leu
NR_168483.1:n.438A>T