Canonical Allele Identifier: CA400556924

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564422C>T (hg19) ; chr17:g.63487061C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487061C>T , CM000679.2:g.63487061C>T	GRCh38
NC_000017.10:g.61564422C>T , CM000679.1:g.61564422C>T	GRCh37
NC_000017.9:g.58918154C>T	NCBI36
NG_011648.1:g.14989C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2293C>T MANE Select	ENSP00000290866.4:p.Gln765Ter
ENST00000290863.10:c.571C>T	ENSP00000290863.6:p.Gln191Ter
ENST00000290866.9:c.2293C>T	ENSP00000290866.4:p.Gln765Ter
ENST00000413513.7:c.571C>T	ENSP00000392247.3:p.Gln191Ter
ENST00000428043.5:c.2293C>T	ENSP00000397593.2:p.Gln765Ter
ENST00000577647.2:c.571C>T	ENSP00000464149.1:p.Gln191Ter
ENST00000578839.5:c.*363C>T	ENSP00000462110.2:n.*363C>T
ENST00000579204.1:c.474C>T	ENSP00000464629.1:n.474C>T
ENST00000579314.5:c.571C>T	ENSP00000462599.1:p.Gln191Ter
ENST00000579726.5:c.855C>T
ENST00000582005.5:c.*213C>T	ENSP00000462002.1:n.*213C>T
ENST00000582761.1:c.61C>T	ENSP00000462909.1:p.Gln21Ter
ENST00000584865.5:n.239C>T
NM_000789.3:c.2293C>T	NP_000780.1:p.Gln765Ter
NM_001178057.1:c.571C>T	NP_001171528.1:p.Gln191Ter
NM_152830.2:c.571C>T	NP_690043.1:p.Gln191Ter
XM_005257110.1:c.1744C>T	XP_005257167.1:p.Gln582Ter
XM_006721737.2:c.631C>T	XP_006721800.2:p.Gln211Ter
XM_006721737.3:c.631C>T	XP_006721800.2:p.Gln211Ter
NM_000789.4:c.2293C>T MANE Select	NP_000780.1:p.Gln765Ter
NM_001178057.2:c.571C>T	NP_001171528.1:p.Gln191Ter
NM_152830.3:c.571C>T	NP_690043.1:p.Gln191Ter
NM_001382700.1:c.1726C>T	NP_001369629.1:p.Gln576Ter
NM_001382701.1:c.1441C>T	NP_001369630.1:p.Gln481Ter
NM_001382702.1:c.223C>T	NP_001369631.1:p.Gln75Ter
NR_168483.1:n.593C>T