Canonical Allele Identifier: CA6038253

Gene: MYRF TMEM258

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61781553G>A , CM000673.2:g.61781553G>A	GRCh38
NC_000011.9:g.61549025G>A , CM000673.1:g.61549025G>A	GRCh37
NC_000011.8:g.61305601G>A	NCBI36
NG_047038.1:g.33917G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278836.10:c.2765-20G>A (MYRF) MANE Select	ENSP00000278836.4:n.2765-20G>A
ENST00000675319.1:c.2130-20G>A (MYRF)
ENST00000675345.1:c.530-20G>A (MYRF)	ENSP00000502028.1:n.530-20G>A
ENST00000265460.9:c.2660-20G>A (MYRF)	ENSP00000265460.5:n.2660-20G>A
ENST00000278836.9:c.2765-20G>A (MYRF)	ENSP00000278836.4:n.2765-20G>A
ENST00000389602.4:c.938-20G>A (MYRF)	ENSP00000374253.4:n.938-20G>A
ENST00000535042.1:n.249-2470C>T (TMEM258)
ENST00000537318.5:n.1105-20G>A (MYRF)
ENST00000546247.1:n.361-20G>A (MYRF)
NM_001127392.2:c.2765-20G>A (MYRF)	NP_001120864.1:n.2765-20G>A
NM_013279.3:c.2660-20G>A (MYRF)	NP_037411.1:n.2660-20G>A
XM_005274222.1:c.2768-20G>A (MYRF)	XP_005274279.1:n.2768-20G>A
XM_005274223.1:c.2768-20G>A (MYRF)	XP_005274280.1:n.2768-20G>A
XM_005274224.1:c.2765-20G>A (MYRF)	XP_005274281.1:n.2765-20G>A
XM_005274225.1:c.2687-20G>A (MYRF)	XP_005274282.1:n.2687-20G>A
XM_005274226.1:c.2684-20G>A (MYRF)	XP_005274283.1:n.2684-20G>A
XM_005274227.1:c.2687-20G>A (MYRF)	XP_005274284.1:n.2687-20G>A
XM_005274228.1:c.2615-20G>A (MYRF)	XP_005274285.1:n.2615-20G>A
XM_011545234.1:c.2165-20G>A (MYRF)	XP_011543536.1:n.2165-20G>A
XM_011545234.2:c.2165-20G>A (MYRF)	XP_011543536.1:n.2165-20G>A
XM_024448677.1:c.2327-20G>A (MYRF)	XP_024304445.1:n.2327-20G>A
NM_001127392.3:c.2765-20G>A (MYRF) MANE Select	NP_001120864.1:n.2765-20G>A
NM_013279.4:c.2660-20G>A (MYRF)	NP_037411.1:n.2660-20G>A