Canonical Allele Identifier: CA2682615

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158662628G>C , CM000665.2:g.158662628G>C	GRCh38
NC_000003.11:g.158380417G>C , CM000665.1:g.158380417G>C	GRCh37
NC_000003.10:g.159863111G>C	NCBI36
NG_008441.1:g.23101G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1324G>C (GFM1) MANE Select	NP_079272.4:p.Glu442Gln
ENST00000486715.6:c.1324G>C (GFM1) MANE Select	ENSP00000419038.1:p.Glu442Gln
NM_001308164.1:c.1381G>C (GFM1)	NP_001295093.1:p.Glu461Gln
NM_001308164.2:c.1381G>C (GFM1)	NP_001295093.1:p.Glu461Gln
NM_001308166.1:c.1324G>C (GFM1)	NP_001295095.1:p.Glu442Gln
NM_001308166.2:c.1324G>C (GFM1)	NP_001295095.1:p.Glu442Gln
NM_001374355.1:c.1243G>C (GFM1)	NP_001361284.1:p.Glu415Gln
NM_001374356.1:c.1207G>C (GFM1)	NP_001361285.1:p.Glu403Gln
NM_001374357.1:c.1099G>C (GFM1)	NP_001361286.1:p.Glu367Gln
NM_001374358.1:c.865G>C (GFM1)	NP_001361287.1:p.Glu289Gln
NM_001374359.1:c.757G>C (GFM1)	NP_001361288.1:p.Glu253Gln
NM_001374360.1:c.757G>C (GFM1)	NP_001361289.1:p.Glu253Gln
NM_001374361.1:c.640G>C (GFM1)	NP_001361290.1:p.Glu214Gln
NM_024996.5:c.1324G>C (GFM1)	NP_079272.4:p.Glu442Gln
NR_164499.1:n.1347G>C (GFM1)
NR_164500.1:n.1432G>C (GFM1)
NR_164501.1:n.977G>C (GFM1)
NR_164502.1:n.1311G>C (GFM1)
ENST00000264263.9:c.1381G>C (GFM1)	ENSP00000264263.5:p.Glu461Gln
ENST00000478254.5:c.1326G>C (GFM1)	ENSP00000417225.1:p.Trp442Cys
ENST00000478576.5:c.1324G>C (GFM1)	ENSP00000418755.1:p.Glu442Gln
ENST00000482640.5:c.361+4384C>G (LXN)
ENST00000486715.5:c.1324G>C (GFM1)	ENSP00000419038.1:p.Glu442Gln
ENST00000490261.1:n.464G>C (GFM1)
XM_006713795.1:c.1207G>C (GFM1)	XP_006713858.1:p.Glu403Gln
XM_006713795.2:c.1207G>C (GFM1)	XP_006713858.1:p.Glu403Gln