Canonical Allele Identifier: CA324580

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158659019G>A , CM000665.2:g.158659019G>A	GRCh38
NC_000003.11:g.158376808G>A , CM000665.1:g.158376808G>A	GRCh37
NC_000003.10:g.159859502G>A	NCBI36
NG_008441.1:g.19492G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486715.6:c.1181G>A (GFM1) MANE Select	ENSP00000419038.1:p.Arg394Gln
ENST00000264263.9:c.1238G>A (GFM1)	ENSP00000264263.5:p.Arg413Gln
ENST00000478254.5:c.1181G>A (GFM1)	ENSP00000417225.1:p.Arg394Gln
ENST00000478576.5:c.1181G>A (GFM1)	ENSP00000418755.1:p.Arg394Gln
ENST00000482640.5:c.361+7993C>T (LXN)
ENST00000486715.5:c.1181G>A (GFM1)	ENSP00000419038.1:p.Arg394Gln
NM_001308164.1:c.1238G>A (GFM1)	NP_001295093.1:p.Arg413Gln
NM_001308166.1:c.1181G>A (GFM1)	NP_001295095.1:p.Arg394Gln
NM_024996.5:c.1181G>A (GFM1)	NP_079272.4:p.Arg394Gln
XM_006713795.1:c.1064G>A (GFM1)	XP_006713858.1:p.Arg355Gln
XM_006713795.2:c.1064G>A (GFM1)	XP_006713858.1:p.Arg355Gln
NM_001374355.1:c.1141-1855G>A (GFM1)	NP_001361284.1:n.1141-1855G>A
NM_001374356.1:c.1064G>A (GFM1)	NP_001361285.1:p.Arg355Gln
NM_001374357.1:c.956G>A (GFM1)	NP_001361286.1:p.Arg319Gln
NM_001374358.1:c.722G>A (GFM1)	NP_001361287.1:p.Arg241Gln
NM_001374359.1:c.614G>A (GFM1)	NP_001361288.1:p.Arg205Gln
NM_001374360.1:c.614G>A (GFM1)	NP_001361289.1:p.Arg205Gln
NM_001374361.1:c.497G>A (GFM1)	NP_001361290.1:p.Arg166Gln
NM_024996.7:c.1181G>A (GFM1) MANE Select	NP_079272.4:p.Arg394Gln
NR_164499.1:n.1204G>A (GFM1)
NR_164500.1:n.1289G>A (GFM1)
NR_164501.1:n.834G>A (GFM1)
NR_164502.1:n.1168G>A (GFM1)
NM_001308164.2:c.1238G>A (GFM1)	NP_001295093.1:p.Arg413Gln
NM_001308166.2:c.1181G>A (GFM1)	NP_001295095.1:p.Arg394Gln