Canonical Allele Identifier: CA400555850

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61563967A>T (hg19) ; chr17:g.63486606A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486606A>T , CM000679.2:g.63486606A>T	GRCh38
NC_000017.10:g.61563967A>T , CM000679.1:g.61563967A>T	GRCh37
NC_000017.9:g.58917699A>T	NCBI36
NG_011648.1:g.14534A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2108A>T MANE Select	ENSP00000290866.4:p.Gln703Leu
ENST00000290863.10:c.386A>T	ENSP00000290863.6:p.Gln129Leu
ENST00000290866.9:c.2108A>T	ENSP00000290866.4:p.Gln703Leu
ENST00000413513.7:c.386A>T	ENSP00000392247.3:p.Gln129Leu
ENST00000428043.5:c.2108A>T	ENSP00000397593.2:p.Gln703Leu
ENST00000577647.2:c.386A>T	ENSP00000464149.1:p.Gln129Leu
ENST00000578839.5:c.*178A>T	ENSP00000462110.2:n.*178A>T
ENST00000579204.1:c.289A>T	ENSP00000464629.1:n.289A>T
ENST00000579314.5:c.386A>T	ENSP00000462599.1:p.Gln129Leu
ENST00000579726.5:c.670A>T
ENST00000582005.5:c.*28A>T	ENSP00000462002.1:n.*28A>T
NM_000789.3:c.2108A>T	NP_000780.1:p.Gln703Leu
NM_001178057.1:c.386A>T	NP_001171528.1:p.Gln129Leu
NM_152830.2:c.386A>T	NP_690043.1:p.Gln129Leu
XM_005257110.1:c.1559A>T	XP_005257167.1:p.Gln520Leu
XM_006721737.2:c.446A>T	XP_006721800.2:p.Gln149Leu
XM_006721737.3:c.446A>T	XP_006721800.2:p.Gln149Leu
NM_000789.4:c.2108A>T MANE Select	NP_000780.1:p.Gln703Leu
NM_001178057.2:c.386A>T	NP_001171528.1:p.Gln129Leu
NM_152830.3:c.386A>T	NP_690043.1:p.Gln129Leu
NM_001382700.1:c.1541A>T	NP_001369629.1:p.Gln514Leu
NM_001382701.1:c.1256A>T	NP_001369630.1:p.Gln419Leu
NM_001382702.1:c.38A>T	NP_001369631.1:p.Gln13Leu
NR_168483.1:n.408A>T