Canonical Allele Identifier: CA400558004

Gene: ACE

Linked Data

• COSMIC: COSM211925
• MyVariant Identifiers: chr17:g.61566111C>A (hg19) ; chr17:g.63488750C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488750C>A , CM000679.2:g.63488750C>A	GRCh38
NC_000017.10:g.61566111C>A , CM000679.1:g.61566111C>A	GRCh37
NC_000017.9:g.58919843C>A	NCBI36
NG_011648.1:g.16678C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2408C>A MANE Select	ENSP00000290866.4:p.Pro803Gln
ENST00000290863.10:c.686C>A	ENSP00000290863.6:p.Pro229Gln
ENST00000290866.9:c.2408C>A	ENSP00000290866.4:p.Pro803Gln
ENST00000413513.7:c.686C>A	ENSP00000392247.3:p.Pro229Gln
ENST00000428043.5:c.2408C>A	ENSP00000397593.2:p.Pro803Gln
ENST00000577647.2:c.686C>A	ENSP00000464149.1:p.Pro229Gln
ENST00000578839.5:c.*478C>A	ENSP00000462110.2:n.*478C>A
ENST00000579204.1:c.667C>A	ENSP00000464629.1:n.667C>A
ENST00000579314.5:c.*137C>A	ENSP00000462599.1:n.*137C>A
ENST00000582005.5:c.*328C>A	ENSP00000462002.1:n.*328C>A
ENST00000582761.1:c.176C>A	ENSP00000462909.1:p.Pro59Gln
ENST00000584865.5:n.354C>A
NM_000789.3:c.2408C>A	NP_000780.1:p.Pro803Gln
NM_001178057.1:c.686C>A	NP_001171528.1:p.Pro229Gln
NM_152830.2:c.686C>A	NP_690043.1:p.Pro229Gln
XM_005257110.1:c.1859C>A	XP_005257167.1:p.Pro620Gln
XM_006721737.2:c.746C>A	XP_006721800.2:p.Pro249Gln
XM_006721737.3:c.746C>A	XP_006721800.2:p.Pro249Gln
NM_000789.4:c.2408C>A MANE Select	NP_000780.1:p.Pro803Gln
NM_001178057.2:c.686C>A	NP_001171528.1:p.Pro229Gln
NM_152830.3:c.686C>A	NP_690043.1:p.Pro229Gln
NM_001382700.1:c.1841C>A	NP_001369629.1:p.Pro614Gln
NM_001382701.1:c.1556C>A	NP_001369630.1:p.Pro519Gln
NM_001382702.1:c.338C>A	NP_001369631.1:p.Pro113Gln
NR_168483.1:n.786C>A