Canonical Allele Identifier: CA86500938

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158653379A>G , CM000665.2:g.158653379A>G	GRCh38
NC_000003.11:g.158371168A>G , CM000665.1:g.158371168A>G	GRCh37
NC_000003.10:g.159853862A>G	NCBI36
NG_008441.1:g.13852A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.910A>G (GFM1) MANE Select	NP_079272.4:p.Lys304Glu
ENST00000486715.6:c.910A>G (GFM1) MANE Select	ENSP00000419038.1:p.Lys304Glu
NM_001308164.1:c.967A>G (GFM1)	NP_001295093.1:p.Lys323Glu
NM_001308164.2:c.967A>G (GFM1)	NP_001295093.1:p.Lys323Glu
NM_001308166.1:c.910A>G (GFM1)	NP_001295095.1:p.Lys304Glu
NM_001308166.2:c.910A>G (GFM1)	NP_001295095.1:p.Lys304Glu
NM_001374355.1:c.967A>G (GFM1)	NP_001361284.1:p.Lys323Glu
NM_001374356.1:c.793A>G (GFM1)	NP_001361285.1:p.Lys265Glu
NM_001374357.1:c.685A>G (GFM1)	NP_001361286.1:p.Lys229Glu
NM_001374358.1:c.451A>G (GFM1)	NP_001361287.1:p.Lys151Glu
NM_001374359.1:c.343A>G (GFM1)	NP_001361288.1:p.Lys115Glu
NM_001374360.1:c.343A>G (GFM1)	NP_001361289.1:p.Lys115Glu
NM_001374361.1:c.226A>G (GFM1)	NP_001361290.1:p.Lys76Glu
NM_024996.5:c.910A>G (GFM1)	NP_079272.4:p.Lys304Glu
NR_164499.1:n.1018A>G (GFM1)
NR_164500.1:n.1018A>G (GFM1)
NR_164501.1:n.563A>G (GFM1)
NR_164502.1:n.897A>G (GFM1)
ENST00000264263.9:c.967A>G (GFM1)	ENSP00000264263.5:p.Lys323Glu
ENST00000312756.4:n.119A>G (GFM1)
ENST00000478254.5:c.910A>G (GFM1)	ENSP00000417225.1:p.Lys304Glu
ENST00000478576.5:c.910A>G (GFM1)	ENSP00000418755.1:p.Lys304Glu
ENST00000482640.5:c.362-7170T>C (LXN)
ENST00000486715.5:c.910A>G (GFM1)	ENSP00000419038.1:p.Lys304Glu
XM_006713795.1:c.793A>G (GFM1)	XP_006713858.1:p.Lys265Glu
XM_006713795.2:c.793A>G (GFM1)	XP_006713858.1:p.Lys265Glu