Canonical Allele Identifier: CA400556352

Gene: ACE

Linked Data

• dbSNP Id: rs2029966298
• gnomAD v4: 17-63486696-C-T
• MyVariant Identifiers: chr17:g.61564057C>T (hg19) ; chr17:g.63486696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486696C>T , CM000679.2:g.63486696C>T	GRCh38
NC_000017.10:g.61564057C>T , CM000679.1:g.61564057C>T	GRCh37
NC_000017.9:g.58917789C>T	NCBI36
NG_011648.1:g.14624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2198C>T MANE Select	ENSP00000290866.4:p.Pro733Leu
ENST00000290863.10:c.476C>T	ENSP00000290863.6:p.Pro159Leu
ENST00000290866.9:c.2198C>T	ENSP00000290866.4:p.Pro733Leu
ENST00000413513.7:c.476C>T	ENSP00000392247.3:p.Pro159Leu
ENST00000428043.5:c.2198C>T	ENSP00000397593.2:p.Pro733Leu
ENST00000577647.2:c.476C>T	ENSP00000464149.1:p.Pro159Leu
ENST00000578839.5:c.*268C>T	ENSP00000462110.2:n.*268C>T
ENST00000579204.1:c.379C>T	ENSP00000464629.1:n.379C>T
ENST00000579314.5:c.476C>T	ENSP00000462599.1:p.Pro159Leu
ENST00000579726.5:c.760C>T
ENST00000582005.5:c.*118C>T	ENSP00000462002.1:n.*118C>T
NM_000789.3:c.2198C>T	NP_000780.1:p.Pro733Leu
NM_001178057.1:c.476C>T	NP_001171528.1:p.Pro159Leu
NM_152830.2:c.476C>T	NP_690043.1:p.Pro159Leu
XM_005257110.1:c.1649C>T	XP_005257167.1:p.Pro550Leu
XM_006721737.2:c.536C>T	XP_006721800.2:p.Pro179Leu
XM_006721737.3:c.536C>T	XP_006721800.2:p.Pro179Leu
NM_000789.4:c.2198C>T MANE Select	NP_000780.1:p.Pro733Leu
NM_001178057.2:c.476C>T	NP_001171528.1:p.Pro159Leu
NM_152830.3:c.476C>T	NP_690043.1:p.Pro159Leu
NM_001382700.1:c.1631C>T	NP_001369629.1:p.Pro544Leu
NM_001382701.1:c.1346C>T	NP_001369630.1:p.Pro449Leu
NM_001382702.1:c.128C>T	NP_001369631.1:p.Pro43Leu
NR_168483.1:n.498C>T