Canonical Allele Identifier: CA400556650

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564368A>C (hg19) ; chr17:g.63487007A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487007A>C , CM000679.2:g.63487007A>C	GRCh38
NC_000017.10:g.61564368A>C , CM000679.1:g.61564368A>C	GRCh37
NC_000017.9:g.58918100A>C	NCBI36
NG_011648.1:g.14935A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2239A>C MANE Select	ENSP00000290866.4:p.Met747Leu
ENST00000290863.10:c.517A>C	ENSP00000290863.6:p.Met173Leu
ENST00000290866.9:c.2239A>C	ENSP00000290866.4:p.Met747Leu
ENST00000413513.7:c.517A>C	ENSP00000392247.3:p.Met173Leu
ENST00000428043.5:c.2239A>C	ENSP00000397593.2:p.Met747Leu
ENST00000577647.2:c.517A>C	ENSP00000464149.1:p.Met173Leu
ENST00000578839.5:c.*309A>C	ENSP00000462110.2:n.*309A>C
ENST00000579204.1:c.420A>C	ENSP00000464629.1:n.420A>C
ENST00000579314.5:c.517A>C	ENSP00000462599.1:p.Met173Leu
ENST00000579726.5:c.801A>C
ENST00000582005.5:c.*159A>C	ENSP00000462002.1:n.*159A>C
ENST00000582761.1:c.7A>C	ENSP00000462909.1:p.Met3Leu
ENST00000584865.5:n.185A>C
NM_000789.3:c.2239A>C	NP_000780.1:p.Met747Leu
NM_001178057.1:c.517A>C	NP_001171528.1:p.Met173Leu
NM_152830.2:c.517A>C	NP_690043.1:p.Met173Leu
XM_005257110.1:c.1690A>C	XP_005257167.1:p.Met564Leu
XM_006721737.2:c.577A>C	XP_006721800.2:p.Met193Leu
XM_006721737.3:c.577A>C	XP_006721800.2:p.Met193Leu
NM_000789.4:c.2239A>C MANE Select	NP_000780.1:p.Met747Leu
NM_001178057.2:c.517A>C	NP_001171528.1:p.Met173Leu
NM_152830.3:c.517A>C	NP_690043.1:p.Met173Leu
NM_001382700.1:c.1672A>C	NP_001369629.1:p.Met558Leu
NM_001382701.1:c.1387A>C	NP_001369630.1:p.Met463Leu
NM_001382702.1:c.169A>C	NP_001369631.1:p.Met57Leu
NR_168483.1:n.539A>C