Canonical Allele Identifier: CA380856545
Community Standard Title: NM_001127392.3(MYRF):c.1786C>T (p.Gln596Ter)
Gene: MYRF HGNC NCBI
TMEM258 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61777459C>T , CM000673.2:g.61777459C>T GRCh38
NC_000011.9:g.61544931C>T , CM000673.1:g.61544931C>T GRCh37
NC_000011.8:g.61301507C>T NCBI36
NG_047038.1:g.29823C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001127392.3:c.1786C>T (MYRF) MANE Select NP_001120864.1:p.Gln596Ter
ENST00000278836.10:c.1786C>T (MYRF) MANE Select ENSP00000278836.4:p.Gln596Ter
NM_001127392.2:c.1786C>T (MYRF) NP_001120864.1:p.Gln596Ter
NM_013279.3:c.1759C>T (MYRF) NP_037411.1:p.Gln587Ter
NM_013279.4:c.1759C>T (MYRF) NP_037411.1:p.Gln587Ter
ENST00000265460.9:c.1759C>T (MYRF) ENSP00000265460.5:p.Gln587Ter
ENST00000278836.9:c.1786C>T (MYRF) ENSP00000278836.4:p.Gln596Ter
ENST00000535042.1:n.479+1394G>A (TMEM258)
ENST00000675319.1:c.1151C>T (MYRF)
XM_005274222.1:c.1786C>T (MYRF) XP_005274279.1:p.Gln596Ter
XM_005274223.1:c.1786C>T (MYRF) XP_005274280.1:p.Gln596Ter
XM_005274224.1:c.1786C>T (MYRF) XP_005274281.1:p.Gln596Ter
XM_005274225.1:c.1786C>T (MYRF) XP_005274282.1:p.Gln596Ter
XM_005274226.1:c.1786C>T (MYRF) XP_005274283.1:p.Gln596Ter
XM_005274227.1:c.1786C>T (MYRF) XP_005274284.1:p.Gln596Ter
XM_005274228.1:c.1633C>T (MYRF) XP_005274285.1:p.Gln545Ter
XM_011545234.1:c.1183C>T (MYRF) XP_011543536.1:p.Gln395Ter
XM_011545234.2:c.1183C>T (MYRF) XP_011543536.1:p.Gln395Ter
XM_024448677.1:c.1345C>T (MYRF) XP_024304445.1:p.Gln449Ter