Canonical Allele Identifier: CA355177876

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158660908C>T , CM000665.2:g.158660908C>T	GRCh38
NC_000003.11:g.158378697C>T , CM000665.1:g.158378697C>T	GRCh37
NC_000003.10:g.159861391C>T	NCBI36
NG_008441.1:g.21381C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486715.6:c.1256C>T (GFM1) MANE Select	ENSP00000419038.1:p.Ala419Val
ENST00000264263.9:c.1313C>T (GFM1)	ENSP00000264263.5:p.Ala438Val
ENST00000478254.5:c.1258C>T (GFM1)	ENSP00000417225.1:p.His420Tyr
ENST00000478576.5:c.1256C>T (GFM1)	ENSP00000418755.1:p.Ala419Val
ENST00000482640.5:c.361+6104G>A (LXN)
ENST00000486715.5:c.1256C>T (GFM1)	ENSP00000419038.1:p.Ala419Val
ENST00000490261.1:n.396C>T (GFM1)
NM_001308164.1:c.1313C>T (GFM1)	NP_001295093.1:p.Ala438Val
NM_001308166.1:c.1256C>T (GFM1)	NP_001295095.1:p.Ala419Val
NM_024996.5:c.1256C>T (GFM1)	NP_079272.4:p.Ala419Val
XM_006713795.1:c.1139C>T (GFM1)	XP_006713858.1:p.Ala380Val
XM_006713795.2:c.1139C>T (GFM1)	XP_006713858.1:p.Ala380Val
NM_001374355.1:c.1175C>T (GFM1)	NP_001361284.1:p.Ala392Val
NM_001374356.1:c.1139C>T (GFM1)	NP_001361285.1:p.Ala380Val
NM_001374357.1:c.1031C>T (GFM1)	NP_001361286.1:p.Ala344Val
NM_001374358.1:c.797C>T (GFM1)	NP_001361287.1:p.Ala266Val
NM_001374359.1:c.689C>T (GFM1)	NP_001361288.1:p.Ala230Val
NM_001374360.1:c.689C>T (GFM1)	NP_001361289.1:p.Ala230Val
NM_001374361.1:c.572C>T (GFM1)	NP_001361290.1:p.Ala191Val
NM_024996.7:c.1256C>T (GFM1) MANE Select	NP_079272.4:p.Ala419Val
NR_164499.1:n.1279C>T (GFM1)
NR_164500.1:n.1364C>T (GFM1)
NR_164501.1:n.909C>T (GFM1)
NR_164502.1:n.1243C>T (GFM1)
NM_001308164.2:c.1313C>T (GFM1)	NP_001295093.1:p.Ala438Val
NM_001308166.2:c.1256C>T (GFM1)	NP_001295095.1:p.Ala419Val