Canonical Allele Identifier: CA400557971

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566097C>G (hg19) ; chr17:g.63488736C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488736C>G , CM000679.2:g.63488736C>G	GRCh38
NC_000017.10:g.61566097C>G , CM000679.1:g.61566097C>G	GRCh37
NC_000017.9:g.58919829C>G	NCBI36
NG_011648.1:g.16664C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2394C>G MANE Select	ENSP00000290866.4:p.Ile798Met
ENST00000290863.10:c.672C>G	ENSP00000290863.6:p.Ile224Met
ENST00000290866.9:c.2394C>G	ENSP00000290866.4:p.Ile798Met
ENST00000413513.7:c.672C>G	ENSP00000392247.3:p.Ile224Met
ENST00000428043.5:c.2394C>G	ENSP00000397593.2:p.Ile798Met
ENST00000577647.2:c.672C>G	ENSP00000464149.1:p.Ile224Met
ENST00000578839.5:c.*464C>G	ENSP00000462110.2:n.*464C>G
ENST00000579204.1:c.653C>G	ENSP00000464629.1:n.653C>G
ENST00000579314.5:c.*123C>G	ENSP00000462599.1:n.*123C>G
ENST00000582005.5:c.*314C>G	ENSP00000462002.1:n.*314C>G
ENST00000582761.1:c.162C>G	ENSP00000462909.1:p.Ile54Met
ENST00000584865.5:n.340C>G
NM_000789.3:c.2394C>G	NP_000780.1:p.Ile798Met
NM_001178057.1:c.672C>G	NP_001171528.1:p.Ile224Met
NM_152830.2:c.672C>G	NP_690043.1:p.Ile224Met
XM_005257110.1:c.1845C>G	XP_005257167.1:p.Ile615Met
XM_006721737.2:c.732C>G	XP_006721800.2:p.Ile244Met
XM_006721737.3:c.732C>G	XP_006721800.2:p.Ile244Met
NM_000789.4:c.2394C>G MANE Select	NP_000780.1:p.Ile798Met
NM_001178057.2:c.672C>G	NP_001171528.1:p.Ile224Met
NM_152830.3:c.672C>G	NP_690043.1:p.Ile224Met
NM_001382700.1:c.1827C>G	NP_001369629.1:p.Ile609Met
NM_001382701.1:c.1542C>G	NP_001369630.1:p.Ile514Met
NM_001382702.1:c.324C>G	NP_001369631.1:p.Ile108Met
NR_168483.1:n.772C>G