Canonical Allele Identifier: CA13418916

Gene: MYRF TMEM258

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61776489T>C , CM000673.2:g.61776489T>C	GRCh38
NC_000011.9:g.61543961T>C , CM000673.1:g.61543961T>C	GRCh37
NC_000011.8:g.61300537T>C	NCBI36
NG_047038.1:g.28853T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001127392.3:c.1499+57T>C (MYRF) MANE Select	NP_001120864.1:n.1499+57T>C
ENST00000278836.10:c.1499+57T>C (MYRF) MANE Select	ENSP00000278836.4:n.1499+57T>C
NM_001127392.2:c.1499+57T>C (MYRF)	NP_001120864.1:n.1499+57T>C
NM_013279.3:c.1472+57T>C (MYRF)	NP_037411.1:n.1472+57T>C
NM_013279.4:c.1472+57T>C (MYRF)	NP_037411.1:n.1472+57T>C
ENST00000265460.9:c.1472+57T>C (MYRF)	ENSP00000265460.5:n.1472+57T>C
ENST00000278836.9:c.1499+57T>C (MYRF)	ENSP00000278836.4:n.1499+57T>C
ENST00000535042.1:n.480-2342A>G (TMEM258)
ENST00000675319.1:c.864+57T>C (MYRF)
XM_005274222.1:c.1499+57T>C (MYRF)	XP_005274279.1:n.1499+57T>C
XM_005274223.1:c.1499+57T>C (MYRF)	XP_005274280.1:n.1499+57T>C
XM_005274224.1:c.1499+57T>C (MYRF)	XP_005274281.1:n.1499+57T>C
XM_005274225.1:c.1499+57T>C (MYRF)	XP_005274282.1:n.1499+57T>C
XM_005274226.1:c.1499+57T>C (MYRF)	XP_005274283.1:n.1499+57T>C
XM_005274227.1:c.1499+57T>C (MYRF)	XP_005274284.1:n.1499+57T>C
XM_005274228.1:c.1346+57T>C (MYRF)	XP_005274285.1:n.1346+57T>C
XM_011545234.1:c.896+57T>C (MYRF)	XP_011543536.1:n.896+57T>C
XM_011545234.2:c.896+57T>C (MYRF)	XP_011543536.1:n.896+57T>C
XM_024448677.1:c.1058+57T>C (MYRF)	XP_024304445.1:n.1058+57T>C