Canonical Allele Identifier: CA400556613

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564362T>A (hg19) ; chr17:g.63487001T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487001T>A , CM000679.2:g.63487001T>A	GRCh38
NC_000017.10:g.61564362T>A , CM000679.1:g.61564362T>A	GRCh37
NC_000017.9:g.58918094T>A	NCBI36
NG_011648.1:g.14929T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2233T>A MANE Select	ENSP00000290866.4:p.Leu745Met
ENST00000290863.10:c.511T>A	ENSP00000290863.6:p.Leu171Met
ENST00000290866.9:c.2233T>A	ENSP00000290866.4:p.Leu745Met
ENST00000413513.7:c.511T>A	ENSP00000392247.3:p.Leu171Met
ENST00000428043.5:c.2233T>A	ENSP00000397593.2:p.Leu745Met
ENST00000577647.2:c.511T>A	ENSP00000464149.1:p.Leu171Met
ENST00000578839.5:c.*303T>A	ENSP00000462110.2:n.*303T>A
ENST00000579204.1:c.414T>A	ENSP00000464629.1:n.414T>A
ENST00000579314.5:c.511T>A	ENSP00000462599.1:p.Leu171Met
ENST00000579726.5:c.795T>A
ENST00000582005.5:c.*153T>A	ENSP00000462002.1:n.*153T>A
ENST00000582761.1:c.1T>A	ENSP00000462909.1:p.Leu1Met
ENST00000584865.5:n.179T>A
NM_000789.3:c.2233T>A	NP_000780.1:p.Leu745Met
NM_001178057.1:c.511T>A	NP_001171528.1:p.Leu171Met
NM_152830.2:c.511T>A	NP_690043.1:p.Leu171Met
XM_005257110.1:c.1684T>A	XP_005257167.1:p.Leu562Met
XM_006721737.2:c.571T>A	XP_006721800.2:p.Leu191Met
XM_006721737.3:c.571T>A	XP_006721800.2:p.Leu191Met
NM_000789.4:c.2233T>A MANE Select	NP_000780.1:p.Leu745Met
NM_001178057.2:c.511T>A	NP_001171528.1:p.Leu171Met
NM_152830.3:c.511T>A	NP_690043.1:p.Leu171Met
NM_001382700.1:c.1666T>A	NP_001369629.1:p.Leu556Met
NM_001382701.1:c.1381T>A	NP_001369630.1:p.Leu461Met
NM_001382702.1:c.163T>A	NP_001369631.1:p.Leu55Met
NR_168483.1:n.533T>A