Canonical Allele Identifier: CA400557936

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566080A>C (hg19) ; chr17:g.63488719A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488719A>C , CM000679.2:g.63488719A>C	GRCh38
NC_000017.10:g.61566080A>C , CM000679.1:g.61566080A>C	GRCh37
NC_000017.9:g.58919812A>C	NCBI36
NG_011648.1:g.16647A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2377A>C MANE Select	ENSP00000290866.4:p.Lys793Gln
ENST00000290863.10:c.655A>C	ENSP00000290863.6:p.Lys219Gln
ENST00000290866.9:c.2377A>C	ENSP00000290866.4:p.Lys793Gln
ENST00000413513.7:c.655A>C	ENSP00000392247.3:p.Lys219Gln
ENST00000428043.5:c.2377A>C	ENSP00000397593.2:p.Lys793Gln
ENST00000577647.2:c.655A>C	ENSP00000464149.1:p.Lys219Gln
ENST00000578839.5:c.*447A>C	ENSP00000462110.2:n.*447A>C
ENST00000579204.1:c.636A>C	ENSP00000464629.1:n.636A>C
ENST00000579314.5:c.*106A>C	ENSP00000462599.1:n.*106A>C
ENST00000582005.5:c.*297A>C	ENSP00000462002.1:n.*297A>C
ENST00000582761.1:c.145A>C	ENSP00000462909.1:p.Lys49Gln
ENST00000584865.5:n.323A>C
NM_000789.3:c.2377A>C	NP_000780.1:p.Lys793Gln
NM_001178057.1:c.655A>C	NP_001171528.1:p.Lys219Gln
NM_152830.2:c.655A>C	NP_690043.1:p.Lys219Gln
XM_005257110.1:c.1828A>C	XP_005257167.1:p.Lys610Gln
XM_006721737.2:c.715A>C	XP_006721800.2:p.Lys239Gln
XM_006721737.3:c.715A>C	XP_006721800.2:p.Lys239Gln
NM_000789.4:c.2377A>C MANE Select	NP_000780.1:p.Lys793Gln
NM_001178057.2:c.655A>C	NP_001171528.1:p.Lys219Gln
NM_152830.3:c.655A>C	NP_690043.1:p.Lys219Gln
NM_001382700.1:c.1810A>C	NP_001369629.1:p.Lys604Gln
NM_001382701.1:c.1525A>C	NP_001369630.1:p.Lys509Gln
NM_001382702.1:c.307A>C	NP_001369631.1:p.Lys103Gln
NR_168483.1:n.755A>C