Canonical Allele Identifier: CA6038071
Community Standard Title: NM_001127392.3(MYRF):c.2227C>T (p.Pro743Ser)
Gene: MYRF HGNC NCBI
TMEM258 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61779550C>T , CM000673.2:g.61779550C>T GRCh38
NC_000011.9:g.61547022C>T , CM000673.1:g.61547022C>T GRCh37
NC_000011.8:g.61303598C>T NCBI36
NG_047038.1:g.31914C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001127392.3:c.2227C>T (MYRF) MANE Select NP_001120864.1:p.Pro743Ser
ENST00000278836.10:c.2227C>T (MYRF) MANE Select ENSP00000278836.4:p.Pro743Ser
NM_001127392.2:c.2227C>T (MYRF) NP_001120864.1:p.Pro743Ser
NM_013279.3:c.2200C>T (MYRF) NP_037411.1:p.Pro734Ser
NM_013279.4:c.2200C>T (MYRF) NP_037411.1:p.Pro734Ser
ENST00000265460.9:c.2200C>T (MYRF) ENSP00000265460.5:p.Pro734Ser
ENST00000278836.9:c.2227C>T (MYRF) ENSP00000278836.4:p.Pro743Ser
ENST00000389602.4:c.400C>T (MYRF) ENSP00000374253.4:p.Pro134Ser
ENST00000535042.1:n.249-467G>A (TMEM258)
ENST00000536352.5:n.722C>T (MYRF)
ENST00000537318.5:n.648C>T (MYRF)
ENST00000675319.1:c.1592C>T (MYRF)
XM_005274222.1:c.2227C>T (MYRF) XP_005274279.1:p.Pro743Ser
XM_005274223.1:c.2227C>T (MYRF) XP_005274280.1:p.Pro743Ser
XM_005274224.1:c.2227C>T (MYRF) XP_005274281.1:p.Pro743Ser
XM_005274225.1:c.2227C>T (MYRF) XP_005274282.1:p.Pro743Ser
XM_005274226.1:c.2227C>T (MYRF) XP_005274283.1:p.Pro743Ser
XM_005274227.1:c.2227C>T (MYRF) XP_005274284.1:p.Pro743Ser
XM_005274228.1:c.2074C>T (MYRF) XP_005274285.1:p.Pro692Ser
XM_011545234.1:c.1624C>T (MYRF) XP_011543536.1:p.Pro542Ser
XM_011545234.2:c.1624C>T (MYRF) XP_011543536.1:p.Pro542Ser
XM_024448677.1:c.1786C>T (MYRF) XP_024304445.1:p.Pro596Ser