Canonical Allele Identifier: CA400556931

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564423A>C (hg19) ; chr17:g.63487062A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487062A>C , CM000679.2:g.63487062A>C	GRCh38
NC_000017.10:g.61564423A>C , CM000679.1:g.61564423A>C	GRCh37
NC_000017.9:g.58918155A>C	NCBI36
NG_011648.1:g.14990A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2294A>C MANE Select	ENSP00000290866.4:p.Gln765Pro
ENST00000290863.10:c.572A>C	ENSP00000290863.6:p.Gln191Pro
ENST00000290866.9:c.2294A>C	ENSP00000290866.4:p.Gln765Pro
ENST00000413513.7:c.572A>C	ENSP00000392247.3:p.Gln191Pro
ENST00000428043.5:c.2294A>C	ENSP00000397593.2:p.Gln765Pro
ENST00000577647.2:c.572A>C	ENSP00000464149.1:p.Gln191Pro
ENST00000578839.5:c.*364A>C	ENSP00000462110.2:n.*364A>C
ENST00000579204.1:c.475A>C	ENSP00000464629.1:n.475A>C
ENST00000579314.5:c.572A>C	ENSP00000462599.1:p.Gln191Pro
ENST00000579726.5:c.856A>C
ENST00000582005.5:c.*214A>C	ENSP00000462002.1:n.*214A>C
ENST00000582761.1:c.62A>C	ENSP00000462909.1:p.Gln21Pro
ENST00000584865.5:n.240A>C
NM_000789.3:c.2294A>C	NP_000780.1:p.Gln765Pro
NM_001178057.1:c.572A>C	NP_001171528.1:p.Gln191Pro
NM_152830.2:c.572A>C	NP_690043.1:p.Gln191Pro
XM_005257110.1:c.1745A>C	XP_005257167.1:p.Gln582Pro
XM_006721737.2:c.632A>C	XP_006721800.2:p.Gln211Pro
XM_006721737.3:c.632A>C	XP_006721800.2:p.Gln211Pro
NM_000789.4:c.2294A>C MANE Select	NP_000780.1:p.Gln765Pro
NM_001178057.2:c.572A>C	NP_001171528.1:p.Gln191Pro
NM_152830.3:c.572A>C	NP_690043.1:p.Gln191Pro
NM_001382700.1:c.1727A>C	NP_001369629.1:p.Gln576Pro
NM_001382701.1:c.1442A>C	NP_001369630.1:p.Gln481Pro
NM_001382702.1:c.224A>C	NP_001369631.1:p.Gln75Pro
NR_168483.1:n.594A>C