Canonical Allele Identifier: CA2682618

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158662647A>G , CM000665.2:g.158662647A>G	GRCh38
NC_000003.11:g.158380436A>G , CM000665.1:g.158380436A>G	GRCh37
NC_000003.10:g.159863130A>G	NCBI36
NG_008441.1:g.23120A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1343A>G (GFM1) MANE Select	NP_079272.4:p.Asp448Gly
ENST00000486715.6:c.1343A>G (GFM1) MANE Select	ENSP00000419038.1:p.Asp448Gly
NM_001308164.1:c.1400A>G (GFM1)	NP_001295093.1:p.Asp467Gly
NM_001308164.2:c.1400A>G (GFM1)	NP_001295093.1:p.Asp467Gly
NM_001308166.1:c.1343A>G (GFM1)	NP_001295095.1:p.Asp448Gly
NM_001308166.2:c.1343A>G (GFM1)	NP_001295095.1:p.Asp448Gly
NM_001374355.1:c.1262A>G (GFM1)	NP_001361284.1:p.Asp421Gly
NM_001374356.1:c.1226A>G (GFM1)	NP_001361285.1:p.Asp409Gly
NM_001374357.1:c.1118A>G (GFM1)	NP_001361286.1:p.Asp373Gly
NM_001374358.1:c.884A>G (GFM1)	NP_001361287.1:p.Asp295Gly
NM_001374359.1:c.776A>G (GFM1)	NP_001361288.1:p.Asp259Gly
NM_001374360.1:c.776A>G (GFM1)	NP_001361289.1:p.Asp259Gly
NM_001374361.1:c.659A>G (GFM1)	NP_001361290.1:p.Asp220Gly
NM_024996.5:c.1343A>G (GFM1)	NP_079272.4:p.Asp448Gly
NR_164499.1:n.1366A>G (GFM1)
NR_164500.1:n.1451A>G (GFM1)
NR_164501.1:n.996A>G (GFM1)
NR_164502.1:n.1330A>G (GFM1)
ENST00000264263.9:c.1400A>G (GFM1)	ENSP00000264263.5:p.Asp467Gly
ENST00000478254.5:c.1345A>G (GFM1)	ENSP00000417225.1:p.Ile449Val
ENST00000478576.5:c.1343A>G (GFM1)	ENSP00000418755.1:p.Asp448Gly
ENST00000482640.5:c.361+4365T>C (LXN)
ENST00000486715.5:c.1343A>G (GFM1)	ENSP00000419038.1:p.Asp448Gly
ENST00000490261.1:n.483A>G (GFM1)
XM_006713795.1:c.1226A>G (GFM1)	XP_006713858.1:p.Asp409Gly
XM_006713795.2:c.1226A>G (GFM1)	XP_006713858.1:p.Asp409Gly