Canonical Allele Identifier: CA400567434

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574274T>C (hg19) ; chr17:g.63496913T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496913T>C , CM000679.2:g.63496913T>C	GRCh38
NC_000017.10:g.61574274T>C , CM000679.1:g.61574274T>C	GRCh37
NC_000017.9:g.58928006T>C	NCBI36
NG_011648.1:g.24841T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3619T>C MANE Select	ENSP00000290866.4:p.Trp1207Arg
ENST00000290863.10:c.1897T>C	ENSP00000290863.6:p.Trp633Arg
ENST00000290866.9:c.3619T>C	ENSP00000290866.4:p.Trp1207Arg
ENST00000413513.7:c.1774T>C	ENSP00000392247.3:p.Trp592Arg
ENST00000428043.5:c.3619T>C	ENSP00000397593.2:p.Trp1207Arg
ENST00000577418.5:n.629T>C
ENST00000577647.2:c.1897T>C	ENSP00000464149.1:p.Trp633Arg
ENST00000578839.5:c.*1374T>C	ENSP00000462110.2:n.*1374T>C
ENST00000579314.5:c.*1348T>C	ENSP00000462599.1:n.*1348T>C
ENST00000579409.1:c.306T>C
ENST00000582244.1:n.493T>C
NM_000789.3:c.3619T>C	NP_000780.1:p.Trp1207Arg
NM_001178057.1:c.1774T>C	NP_001171528.1:p.Trp592Arg
NM_152830.2:c.1897T>C	NP_690043.1:p.Trp633Arg
XM_005257110.1:c.3070T>C	XP_005257167.1:p.Trp1024Arg
XM_006721737.2:c.1957T>C	XP_006721800.2:p.Trp653Arg
XM_006721737.3:c.1957T>C	XP_006721800.2:p.Trp653Arg
NM_000789.4:c.3619T>C MANE Select	NP_000780.1:p.Trp1207Arg
NM_001178057.2:c.1774T>C	NP_001171528.1:p.Trp592Arg
NM_152830.3:c.1897T>C	NP_690043.1:p.Trp633Arg
NM_001382700.1:c.3052T>C	NP_001369629.1:p.Trp1018Arg
NM_001382701.1:c.2767T>C	NP_001369630.1:p.Trp923Arg
NM_001382702.1:c.1234T>C	NP_001369631.1:p.Trp412Arg
NR_168483.1:n.1997T>C