Canonical Allele Identifier: CA400566534

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574168G>A (hg19) ; chr17:g.63496807G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496807G>A , CM000679.2:g.63496807G>A	GRCh38
NC_000017.10:g.61574168G>A , CM000679.1:g.61574168G>A	GRCh37
NC_000017.9:g.58927900G>A	NCBI36
NG_011648.1:g.24735G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3513G>A MANE Select	ENSP00000290866.4:p.Met1171Ile
ENST00000290863.10:c.1791G>A	ENSP00000290863.6:p.Met597Ile
ENST00000290866.9:c.3513G>A	ENSP00000290866.4:p.Met1171Ile
ENST00000413513.7:c.1668G>A	ENSP00000392247.3:p.Met556Ile
ENST00000428043.5:c.3513G>A	ENSP00000397593.2:p.Met1171Ile
ENST00000577418.5:n.523G>A
ENST00000577647.2:c.1791G>A	ENSP00000464149.1:p.Met597Ile
ENST00000578839.5:c.*1268G>A	ENSP00000462110.2:n.*1268G>A
ENST00000579314.5:c.*1242G>A	ENSP00000462599.1:n.*1242G>A
ENST00000579409.1:c.200G>A
ENST00000582244.1:n.387G>A
NM_000789.3:c.3513G>A	NP_000780.1:p.Met1171Ile
NM_001178057.1:c.1668G>A	NP_001171528.1:p.Met556Ile
NM_152830.2:c.1791G>A	NP_690043.1:p.Met597Ile
XM_005257110.1:c.2964G>A	XP_005257167.1:p.Met988Ile
XM_006721737.2:c.1851G>A	XP_006721800.2:p.Met617Ile
XM_006721737.3:c.1851G>A	XP_006721800.2:p.Met617Ile
NM_000789.4:c.3513G>A MANE Select	NP_000780.1:p.Met1171Ile
NM_001178057.2:c.1668G>A	NP_001171528.1:p.Met556Ile
NM_152830.3:c.1791G>A	NP_690043.1:p.Met597Ile
NM_001382700.1:c.2946G>A	NP_001369629.1:p.Met982Ile
NM_001382701.1:c.2661G>A	NP_001369630.1:p.Met887Ile
NM_001382702.1:c.1128G>A	NP_001369631.1:p.Met376Ile
NR_168483.1:n.1891G>A