Canonical Allele Identifier: CA400556915

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564419C>A (hg19) ; chr17:g.63487058C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487058C>A , CM000679.2:g.63487058C>A	GRCh38
NC_000017.10:g.61564419C>A , CM000679.1:g.61564419C>A	GRCh37
NC_000017.9:g.58918151C>A	NCBI36
NG_011648.1:g.14986C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2290C>A MANE Select	ENSP00000290866.4:p.Leu764Met
ENST00000290863.10:c.568C>A	ENSP00000290863.6:p.Leu190Met
ENST00000290866.9:c.2290C>A	ENSP00000290866.4:p.Leu764Met
ENST00000413513.7:c.568C>A	ENSP00000392247.3:p.Leu190Met
ENST00000428043.5:c.2290C>A	ENSP00000397593.2:p.Leu764Met
ENST00000577647.2:c.568C>A	ENSP00000464149.1:p.Leu190Met
ENST00000578839.5:c.*360C>A	ENSP00000462110.2:n.*360C>A
ENST00000579204.1:c.471C>A	ENSP00000464629.1:n.471C>A
ENST00000579314.5:c.568C>A	ENSP00000462599.1:p.Leu190Met
ENST00000579726.5:c.852C>A
ENST00000582005.5:c.*210C>A	ENSP00000462002.1:n.*210C>A
ENST00000582761.1:c.58C>A	ENSP00000462909.1:p.Leu20Met
ENST00000584865.5:n.236C>A
NM_000789.3:c.2290C>A	NP_000780.1:p.Leu764Met
NM_001178057.1:c.568C>A	NP_001171528.1:p.Leu190Met
NM_152830.2:c.568C>A	NP_690043.1:p.Leu190Met
XM_005257110.1:c.1741C>A	XP_005257167.1:p.Leu581Met
XM_006721737.2:c.628C>A	XP_006721800.2:p.Leu210Met
XM_006721737.3:c.628C>A	XP_006721800.2:p.Leu210Met
NM_000789.4:c.2290C>A MANE Select	NP_000780.1:p.Leu764Met
NM_001178057.2:c.568C>A	NP_001171528.1:p.Leu190Met
NM_152830.3:c.568C>A	NP_690043.1:p.Leu190Met
NM_001382700.1:c.1723C>A	NP_001369629.1:p.Leu575Met
NM_001382701.1:c.1438C>A	NP_001369630.1:p.Leu480Met
NM_001382702.1:c.220C>A	NP_001369631.1:p.Leu74Met
NR_168483.1:n.590C>A