Canonical Allele Identifier: CA8700141

Gene: ACE

Linked Data

• dbSNP Id: rs3730036
• ExAC: 17:61566370 C / T
• gnomAD v2: 17-61566370-C-T
• gnomAD v3: 17-63489009-C-T
• gnomAD v4: 17-63489009-C-T
• COSMIC: COSM1679997 ; COSM1679998 ; COSM1679999
• MyVariant Identifiers: chr17:g.61566370C>T (hg19) ; chr17:g.63489009C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63489009C>T , CM000679.2:g.63489009C>T	GRCh38
NC_000017.10:g.61566370C>T , CM000679.1:g.61566370C>T	GRCh37
NC_000017.9:g.58920102C>T	NCBI36
NG_011648.1:g.16937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2518C>T MANE Select	ENSP00000290866.4:p.Arg840Trp
ENST00000290863.10:c.796C>T	ENSP00000290863.6:p.Arg266Trp
ENST00000290866.9:c.2518C>T	ENSP00000290866.4:p.Arg840Trp
ENST00000413513.7:c.796C>T	ENSP00000392247.3:p.Arg266Trp
ENST00000428043.5:c.2518C>T	ENSP00000397593.2:p.Arg840Trp
ENST00000577647.2:c.796C>T	ENSP00000464149.1:p.Arg266Trp
ENST00000578839.5:c.*519+218C>T	ENSP00000462110.2:n.*519+218C>T
ENST00000579204.1:c.777C>T	ENSP00000464629.1:n.777C>T
ENST00000579314.5:c.*247C>T	ENSP00000462599.1:n.*247C>T
ENST00000582005.5:c.*438C>T	ENSP00000462002.1:n.*438C>T
ENST00000582761.1:c.286C>T	ENSP00000462909.1:p.Arg96Trp
ENST00000584865.5:n.464C>T
NM_000789.3:c.2518C>T	NP_000780.1:p.Arg840Trp
NM_001178057.1:c.796C>T	NP_001171528.1:p.Arg266Trp
NM_152830.2:c.796C>T	NP_690043.1:p.Arg266Trp
XM_005257110.1:c.1969C>T	XP_005257167.1:p.Arg657Trp
XM_006721737.2:c.856C>T	XP_006721800.2:p.Arg286Trp
XM_006721737.3:c.856C>T	XP_006721800.2:p.Arg286Trp
NM_000789.4:c.2518C>T MANE Select	NP_000780.1:p.Arg840Trp
NM_001178057.2:c.796C>T	NP_001171528.1:p.Arg266Trp
NM_152830.3:c.796C>T	NP_690043.1:p.Arg266Trp
NM_001382700.1:c.1951C>T	NP_001369629.1:p.Arg651Trp
NM_001382701.1:c.1666C>T	NP_001369630.1:p.Arg556Trp
NM_001382702.1:c.379+218C>T	NP_001369631.1:n.379+218C>T
NR_168483.1:n.896C>T