Canonical Allele Identifier: CA400557875

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566051T>G (hg19) ; chr17:g.63488690T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488690T>G , CM000679.2:g.63488690T>G	GRCh38
NC_000017.10:g.61566051T>G , CM000679.1:g.61566051T>G	GRCh37
NC_000017.9:g.58919783T>G	NCBI36
NG_011648.1:g.16618T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2348T>G MANE Select	ENSP00000290866.4:p.Leu783Arg
ENST00000290863.10:c.626T>G	ENSP00000290863.6:p.Leu209Arg
ENST00000290866.9:c.2348T>G	ENSP00000290866.4:p.Leu783Arg
ENST00000413513.7:c.626T>G	ENSP00000392247.3:p.Leu209Arg
ENST00000428043.5:c.2348T>G	ENSP00000397593.2:p.Leu783Arg
ENST00000577647.2:c.626T>G	ENSP00000464149.1:p.Leu209Arg
ENST00000578839.5:c.*418T>G	ENSP00000462110.2:n.*418T>G
ENST00000579204.1:c.607T>G	ENSP00000464629.1:n.607T>G
ENST00000579314.5:c.*77T>G	ENSP00000462599.1:n.*77T>G
ENST00000582005.5:c.*268T>G	ENSP00000462002.1:n.*268T>G
ENST00000582761.1:c.116T>G	ENSP00000462909.1:p.Leu39Arg
ENST00000584865.5:n.294T>G
NM_000789.3:c.2348T>G	NP_000780.1:p.Leu783Arg
NM_001178057.1:c.626T>G	NP_001171528.1:p.Leu209Arg
NM_152830.2:c.626T>G	NP_690043.1:p.Leu209Arg
XM_005257110.1:c.1799T>G	XP_005257167.1:p.Leu600Arg
XM_006721737.2:c.686T>G	XP_006721800.2:p.Leu229Arg
XM_006721737.3:c.686T>G	XP_006721800.2:p.Leu229Arg
NM_000789.4:c.2348T>G MANE Select	NP_000780.1:p.Leu783Arg
NM_001178057.2:c.626T>G	NP_001171528.1:p.Leu209Arg
NM_152830.3:c.626T>G	NP_690043.1:p.Leu209Arg
NM_001382700.1:c.1781T>G	NP_001369629.1:p.Leu594Arg
NM_001382701.1:c.1496T>G	NP_001369630.1:p.Leu499Arg
NM_001382702.1:c.278T>G	NP_001369631.1:p.Leu93Arg
NR_168483.1:n.726T>G