Canonical Allele Identifier: CA2682447

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158653319C>T , CM000665.2:g.158653319C>T	GRCh38
NC_000003.11:g.158371108C>T , CM000665.1:g.158371108C>T	GRCh37
NC_000003.10:g.159853802C>T	NCBI36
NG_008441.1:g.13792C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.850C>T (GFM1) MANE Select	NP_079272.4:p.Arg284Ter
ENST00000486715.6:c.850C>T (GFM1) MANE Select	ENSP00000419038.1:p.Arg284Ter
NM_001308164.1:c.907C>T (GFM1)	NP_001295093.1:p.Arg303Ter
NM_001308164.2:c.907C>T (GFM1)	NP_001295093.1:p.Arg303Ter
NM_001308166.1:c.850C>T (GFM1)	NP_001295095.1:p.Arg284Ter
NM_001308166.2:c.850C>T (GFM1)	NP_001295095.1:p.Arg284Ter
NM_001374355.1:c.907C>T (GFM1)	NP_001361284.1:p.Arg303Ter
NM_001374356.1:c.733C>T (GFM1)	NP_001361285.1:p.Arg245Ter
NM_001374357.1:c.625C>T (GFM1)	NP_001361286.1:p.Arg209Ter
NM_001374358.1:c.391C>T (GFM1)	NP_001361287.1:p.Arg131Ter
NM_001374359.1:c.283C>T (GFM1)	NP_001361288.1:p.Arg95Ter
NM_001374360.1:c.283C>T (GFM1)	NP_001361289.1:p.Arg95Ter
NM_001374361.1:c.166C>T (GFM1)	NP_001361290.1:p.Arg56Ter
NM_024996.5:c.850C>T (GFM1)	NP_079272.4:p.Arg284Ter
NR_164499.1:n.958C>T (GFM1)
NR_164500.1:n.958C>T (GFM1)
NR_164501.1:n.503C>T (GFM1)
NR_164502.1:n.837C>T (GFM1)
ENST00000264263.9:c.907C>T (GFM1)	ENSP00000264263.5:p.Arg303Ter
ENST00000312756.4:n.59C>T (GFM1)
ENST00000478254.5:c.850C>T (GFM1)	ENSP00000417225.1:p.Arg284Ter
ENST00000478576.5:c.850C>T (GFM1)	ENSP00000418755.1:p.Arg284Ter
ENST00000482640.5:c.362-7110G>A (LXN)
ENST00000486715.5:c.850C>T (GFM1)	ENSP00000419038.1:p.Arg284Ter
XM_006713795.1:c.733C>T (GFM1)	XP_006713858.1:p.Arg245Ter
XM_006713795.2:c.733C>T (GFM1)	XP_006713858.1:p.Arg245Ter