Canonical Allele Identifier: CA400567365

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574263C>A (hg19) ; chr17:g.63496902C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496902C>A , CM000679.2:g.63496902C>A	GRCh38
NC_000017.10:g.61574263C>A , CM000679.1:g.61574263C>A	GRCh37
NC_000017.9:g.58927995C>A	NCBI36
NG_011648.1:g.24830C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3608C>A MANE Select	ENSP00000290866.4:p.Pro1203Gln
ENST00000290863.10:c.1886C>A	ENSP00000290863.6:p.Pro629Gln
ENST00000290866.9:c.3608C>A	ENSP00000290866.4:p.Pro1203Gln
ENST00000413513.7:c.1763C>A	ENSP00000392247.3:p.Pro588Gln
ENST00000428043.5:c.3608C>A	ENSP00000397593.2:p.Pro1203Gln
ENST00000577418.5:n.618C>A
ENST00000577647.2:c.1886C>A	ENSP00000464149.1:p.Pro629Gln
ENST00000578839.5:c.*1363C>A	ENSP00000462110.2:n.*1363C>A
ENST00000579314.5:c.*1337C>A	ENSP00000462599.1:n.*1337C>A
ENST00000579409.1:c.295C>A
ENST00000582244.1:n.482C>A
NM_000789.3:c.3608C>A	NP_000780.1:p.Pro1203Gln
NM_001178057.1:c.1763C>A	NP_001171528.1:p.Pro588Gln
NM_152830.2:c.1886C>A	NP_690043.1:p.Pro629Gln
XM_005257110.1:c.3059C>A	XP_005257167.1:p.Pro1020Gln
XM_006721737.2:c.1946C>A	XP_006721800.2:p.Pro649Gln
XM_006721737.3:c.1946C>A	XP_006721800.2:p.Pro649Gln
NM_000789.4:c.3608C>A MANE Select	NP_000780.1:p.Pro1203Gln
NM_001178057.2:c.1763C>A	NP_001171528.1:p.Pro588Gln
NM_152830.3:c.1886C>A	NP_690043.1:p.Pro629Gln
NM_001382700.1:c.3041C>A	NP_001369629.1:p.Pro1014Gln
NM_001382701.1:c.2756C>A	NP_001369630.1:p.Pro919Gln
NM_001382702.1:c.1223C>A	NP_001369631.1:p.Pro408Gln
NR_168483.1:n.1986C>A