Canonical Allele Identifier: CA400555906

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61563978T>C (hg19) ; chr17:g.63486617T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486617T>C , CM000679.2:g.63486617T>C	GRCh38
NC_000017.10:g.61563978T>C , CM000679.1:g.61563978T>C	GRCh37
NC_000017.9:g.58917710T>C	NCBI36
NG_011648.1:g.14545T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2119T>C MANE Select	ENSP00000290866.4:p.Phe707Leu
ENST00000290863.10:c.397T>C	ENSP00000290863.6:p.Phe133Leu
ENST00000290866.9:c.2119T>C	ENSP00000290866.4:p.Phe707Leu
ENST00000413513.7:c.397T>C	ENSP00000392247.3:p.Phe133Leu
ENST00000428043.5:c.2119T>C	ENSP00000397593.2:p.Phe707Leu
ENST00000577647.2:c.397T>C	ENSP00000464149.1:p.Phe133Leu
ENST00000578839.5:c.*189T>C	ENSP00000462110.2:n.*189T>C
ENST00000579204.1:c.300T>C	ENSP00000464629.1:n.300T>C
ENST00000579314.5:c.397T>C	ENSP00000462599.1:p.Phe133Leu
ENST00000579726.5:c.681T>C
ENST00000582005.5:c.*39T>C	ENSP00000462002.1:n.*39T>C
NM_000789.3:c.2119T>C	NP_000780.1:p.Phe707Leu
NM_001178057.1:c.397T>C	NP_001171528.1:p.Phe133Leu
NM_152830.2:c.397T>C	NP_690043.1:p.Phe133Leu
XM_005257110.1:c.1570T>C	XP_005257167.1:p.Phe524Leu
XM_006721737.2:c.457T>C	XP_006721800.2:p.Phe153Leu
XM_006721737.3:c.457T>C	XP_006721800.2:p.Phe153Leu
NM_000789.4:c.2119T>C MANE Select	NP_000780.1:p.Phe707Leu
NM_001178057.2:c.397T>C	NP_001171528.1:p.Phe133Leu
NM_152830.3:c.397T>C	NP_690043.1:p.Phe133Leu
NM_001382700.1:c.1552T>C	NP_001369629.1:p.Phe518Leu
NM_001382701.1:c.1267T>C	NP_001369630.1:p.Phe423Leu
NM_001382702.1:c.49T>C	NP_001369631.1:p.Phe17Leu
NR_168483.1:n.419T>C