Canonical Allele Identifier: CA400558344

Gene: ACE

Linked Data

• dbSNP Id: rs2030190997
• MyVariant Identifiers: chr17:g.61566373C>T (hg19) ; chr17:g.63489012C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489012C>T , CM000679.2:g.63489012C>T	GRCh38
NC_000017.10:g.61566373C>T , CM000679.1:g.61566373C>T	GRCh37
NC_000017.9:g.58920105C>T	NCBI36
NG_011648.1:g.16940C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2521C>T MANE Select	ENSP00000290866.4:p.Leu841Phe
ENST00000290863.10:c.799C>T	ENSP00000290863.6:p.Leu267Phe
ENST00000290866.9:c.2521C>T	ENSP00000290866.4:p.Leu841Phe
ENST00000413513.7:c.799C>T	ENSP00000392247.3:p.Leu267Phe
ENST00000428043.5:c.2521C>T	ENSP00000397593.2:p.Leu841Phe
ENST00000577647.2:c.799C>T	ENSP00000464149.1:p.Leu267Phe
ENST00000578839.5:c.*519+221C>T	ENSP00000462110.2:n.*519+221C>T
ENST00000579204.1:c.780C>T	ENSP00000464629.1:n.780C>T
ENST00000579314.5:c.*250C>T	ENSP00000462599.1:n.*250C>T
ENST00000582005.5:c.*441C>T	ENSP00000462002.1:n.*441C>T
ENST00000582761.1:c.289C>T	ENSP00000462909.1:p.Leu97Phe
ENST00000584865.5:n.467C>T
NM_000789.3:c.2521C>T	NP_000780.1:p.Leu841Phe
NM_001178057.1:c.799C>T	NP_001171528.1:p.Leu267Phe
NM_152830.2:c.799C>T	NP_690043.1:p.Leu267Phe
XM_005257110.1:c.1972C>T	XP_005257167.1:p.Leu658Phe
XM_006721737.2:c.859C>T	XP_006721800.2:p.Leu287Phe
XM_006721737.3:c.859C>T	XP_006721800.2:p.Leu287Phe
NM_000789.4:c.2521C>T MANE Select	NP_000780.1:p.Leu841Phe
NM_001178057.2:c.799C>T	NP_001171528.1:p.Leu267Phe
NM_152830.3:c.799C>T	NP_690043.1:p.Leu267Phe
NM_001382700.1:c.1954C>T	NP_001369629.1:p.Leu652Phe
NM_001382701.1:c.1669C>T	NP_001369630.1:p.Leu557Phe
NM_001382702.1:c.379+221C>T	NP_001369631.1:n.379+221C>T
NR_168483.1:n.899C>T