Canonical Allele Identifier: CA322064

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158658952C>T , CM000665.2:g.158658952C>T	GRCh38
NC_000003.11:g.158376741C>T , CM000665.1:g.158376741C>T	GRCh37
NC_000003.10:g.159859435C>T	NCBI36
NG_008441.1:g.19425C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486715.6:c.1114C>T (GFM1) MANE Select	ENSP00000419038.1:p.Arg372Cys
ENST00000264263.9:c.1171C>T (GFM1)	ENSP00000264263.5:p.Arg391Cys
ENST00000478254.5:c.1114C>T (GFM1)	ENSP00000417225.1:p.Arg372Cys
ENST00000478576.5:c.1114C>T (GFM1)	ENSP00000418755.1:p.Arg372Cys
ENST00000482640.5:c.361+8060G>A (LXN)
ENST00000486715.5:c.1114C>T (GFM1)	ENSP00000419038.1:p.Arg372Cys
NM_001308164.1:c.1171C>T (GFM1)	NP_001295093.1:p.Arg391Cys
NM_001308166.1:c.1114C>T (GFM1)	NP_001295095.1:p.Arg372Cys
NM_024996.5:c.1114C>T (GFM1)	NP_079272.4:p.Arg372Cys
XM_006713795.1:c.997C>T (GFM1)	XP_006713858.1:p.Arg333Cys
XM_006713795.2:c.997C>T (GFM1)	XP_006713858.1:p.Arg333Cys
NM_001374355.1:c.1141-1922C>T (GFM1)	NP_001361284.1:n.1141-1922C>T
NM_001374356.1:c.997C>T (GFM1)	NP_001361285.1:p.Arg333Cys
NM_001374357.1:c.889C>T (GFM1)	NP_001361286.1:p.Arg297Cys
NM_001374358.1:c.655C>T (GFM1)	NP_001361287.1:p.Arg219Cys
NM_001374359.1:c.547C>T (GFM1)	NP_001361288.1:p.Arg183Cys
NM_001374360.1:c.547C>T (GFM1)	NP_001361289.1:p.Arg183Cys
NM_001374361.1:c.430C>T (GFM1)	NP_001361290.1:p.Arg144Cys
NM_024996.7:c.1114C>T (GFM1) MANE Select	NP_079272.4:p.Arg372Cys
NR_164499.1:n.1137C>T (GFM1)
NR_164500.1:n.1222C>T (GFM1)
NR_164501.1:n.767C>T (GFM1)
NR_164502.1:n.1101C>T (GFM1)
NM_001308164.2:c.1171C>T (GFM1)	NP_001295093.1:p.Arg391Cys
NM_001308166.2:c.1114C>T (GFM1)	NP_001295095.1:p.Arg372Cys