Canonical Allele Identifier: CA400567317

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574259A>C (hg19) ; chr17:g.63496898A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496898A>C , CM000679.2:g.63496898A>C	GRCh38
NC_000017.10:g.61574259A>C , CM000679.1:g.61574259A>C	GRCh37
NC_000017.9:g.58927991A>C	NCBI36
NG_011648.1:g.24826A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.3604A>C MANE Select	ENSP00000290866.4:p.Lys1202Gln
ENST00000290863.10:c.1882A>C	ENSP00000290863.6:p.Lys628Gln
ENST00000290866.9:c.3604A>C	ENSP00000290866.4:p.Lys1202Gln
ENST00000413513.7:c.1759A>C	ENSP00000392247.3:p.Lys587Gln
ENST00000428043.5:c.3604A>C	ENSP00000397593.2:p.Lys1202Gln
ENST00000577418.5:n.614A>C
ENST00000577647.2:c.1882A>C	ENSP00000464149.1:p.Lys628Gln
ENST00000578839.5:c.*1359A>C	ENSP00000462110.2:n.*1359A>C
ENST00000579314.5:c.*1333A>C	ENSP00000462599.1:n.*1333A>C
ENST00000579409.1:c.291A>C
ENST00000582244.1:n.478A>C
NM_000789.3:c.3604A>C	NP_000780.1:p.Lys1202Gln
NM_001178057.1:c.1759A>C	NP_001171528.1:p.Lys587Gln
NM_152830.2:c.1882A>C	NP_690043.1:p.Lys628Gln
XM_005257110.1:c.3055A>C	XP_005257167.1:p.Lys1019Gln
XM_006721737.2:c.1942A>C	XP_006721800.2:p.Lys648Gln
XM_006721737.3:c.1942A>C	XP_006721800.2:p.Lys648Gln
NM_000789.4:c.3604A>C MANE Select	NP_000780.1:p.Lys1202Gln
NM_001178057.2:c.1759A>C	NP_001171528.1:p.Lys587Gln
NM_152830.3:c.1882A>C	NP_690043.1:p.Lys628Gln
NM_001382700.1:c.3037A>C	NP_001369629.1:p.Lys1013Gln
NM_001382701.1:c.2752A>C	NP_001369630.1:p.Lys918Gln
NM_001382702.1:c.1219A>C	NP_001369631.1:p.Lys407Gln
NR_168483.1:n.1982A>C