Canonical Allele Identifier: CA15883955
Community Standard Title: NM_016138.5(COQ7):c.*82C>G
Gene: COQ7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.19078240C>G , CM000678.2:g.19078240C>G GRCh38
NC_000016.9:g.19089562C>G , CM000678.1:g.19089562C>G GRCh37
NC_000016.8:g.18997063C>G NCBI36
NG_046596.1:g.15646C>G

Transcript Alleles

HGVS Amino-acid Change
NM_016138.5:c.*82C>G MANE Select NP_057222.2:n.*82C>G
ENST00000321998.10:c.*82C>G MANE Select ENSP00000322316.5:n.*82C>G
NM_001190983.1:c.*82C>G NP_001177912.1:n.*82C>G
NM_001190983.2:c.*82C>G NP_001177912.1:n.*82C>G
NM_001370489.1:c.*82C>G NP_001357418.1:n.*82C>G
NM_001370490.1:c.*82C>G NP_001357419.1:n.*82C>G
NM_001370491.1:c.*82C>G NP_001357420.1:n.*82C>G
NM_001370492.1:c.*82C>G NP_001357421.1:n.*82C>G
NM_001370493.1:c.*82C>G NP_001357422.1:n.*82C>G
NM_001370494.1:c.*82C>G NP_001357423.1:n.*82C>G
NM_001370495.1:c.*82C>G NP_001357424.1:n.*82C>G
NM_016138.4:c.*82C>G NP_057222.2:n.*82C>G
NR_163448.1:n.849C>G
NR_163449.1:n.827C>G
NR_163450.1:n.672C>G
ENST00000321998.9:c.*82C>G ENSP00000322316.5:n.*82C>G
ENST00000544894.6:c.*82C>G ENSP00000442923.2:n.*82C>G
ENST00000566049.5:c.*300C>G ENSP00000456490.1:n.*300C>G
ENST00000568985.5:c.*1+81C>G ENSP00000456734.1:n.*1+81C>G
ENST00000569127.1:c.*82C>G ENSP00000455122.1:n.*82C>G
ENST00000569312.5:c.*387C>G ENSP00000459076.1:n.*387C>G
XM_024450140.1:c.*82C>G XP_024305908.1:n.*82C>G
XM_024450141.1:c.*82C>G XP_024305909.1:n.*82C>G
XR_950722.1:n.806C>G
XR_950722.3:n.806C>G