Canonical Allele Identifier: CA86505734

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158658956G>A , CM000665.2:g.158658956G>A	GRCh38
NC_000003.11:g.158376745G>A , CM000665.1:g.158376745G>A	GRCh37
NC_000003.10:g.159859439G>A	NCBI36
NG_008441.1:g.19429G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1118G>A (GFM1) MANE Select	NP_079272.4:p.Ser373Asn
ENST00000486715.6:c.1118G>A (GFM1) MANE Select	ENSP00000419038.1:p.Ser373Asn
NM_001308164.1:c.1175G>A (GFM1)	NP_001295093.1:p.Ser392Asn
NM_001308164.2:c.1175G>A (GFM1)	NP_001295093.1:p.Ser392Asn
NM_001308166.1:c.1118G>A (GFM1)	NP_001295095.1:p.Ser373Asn
NM_001308166.2:c.1118G>A (GFM1)	NP_001295095.1:p.Ser373Asn
NM_001374355.1:c.1141-1918G>A (GFM1)	NP_001361284.1:n.1141-1918G>A
NM_001374356.1:c.1001G>A (GFM1)	NP_001361285.1:p.Ser334Asn
NM_001374357.1:c.893G>A (GFM1)	NP_001361286.1:p.Ser298Asn
NM_001374358.1:c.659G>A (GFM1)	NP_001361287.1:p.Ser220Asn
NM_001374359.1:c.551G>A (GFM1)	NP_001361288.1:p.Ser184Asn
NM_001374360.1:c.551G>A (GFM1)	NP_001361289.1:p.Ser184Asn
NM_001374361.1:c.434G>A (GFM1)	NP_001361290.1:p.Ser145Asn
NM_024996.5:c.1118G>A (GFM1)	NP_079272.4:p.Ser373Asn
NR_164499.1:n.1141G>A (GFM1)
NR_164500.1:n.1226G>A (GFM1)
NR_164501.1:n.771G>A (GFM1)
NR_164502.1:n.1105G>A (GFM1)
ENST00000264263.9:c.1175G>A (GFM1)	ENSP00000264263.5:p.Ser392Asn
ENST00000478254.5:c.1118G>A (GFM1)	ENSP00000417225.1:p.Ser373Asn
ENST00000478576.5:c.1118G>A (GFM1)	ENSP00000418755.1:p.Ser373Asn
ENST00000482640.5:c.361+8056C>T (LXN)
ENST00000486715.5:c.1118G>A (GFM1)	ENSP00000419038.1:p.Ser373Asn
XM_006713795.1:c.1001G>A (GFM1)	XP_006713858.1:p.Ser334Asn
XM_006713795.2:c.1001G>A (GFM1)	XP_006713858.1:p.Ser334Asn