Canonical Allele Identifier: CA355176624

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158652111T>G , CM000665.2:g.158652111T>G	GRCh38
NC_000003.11:g.158369900T>G , CM000665.1:g.158369900T>G	GRCh37
NC_000003.10:g.159852594T>G	NCBI36
NG_008441.1:g.12584T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.705T>G (GFM1) MANE Select	NP_079272.4:p.Tyr235Ter
ENST00000486715.6:c.705T>G (GFM1) MANE Select	ENSP00000419038.1:p.Tyr235Ter
NM_001308164.1:c.762T>G (GFM1)	NP_001295093.1:p.Tyr254Ter
NM_001308164.2:c.762T>G (GFM1)	NP_001295093.1:p.Tyr254Ter
NM_001308166.1:c.705T>G (GFM1)	NP_001295095.1:p.Tyr235Ter
NM_001308166.2:c.705T>G (GFM1)	NP_001295095.1:p.Tyr235Ter
NM_001374355.1:c.762T>G (GFM1)	NP_001361284.1:p.Tyr254Ter
NM_001374356.1:c.588T>G (GFM1)	NP_001361285.1:p.Tyr196Ter
NM_001374357.1:c.480T>G (GFM1)	NP_001361286.1:p.Tyr160Ter
NM_001374358.1:c.246T>G (GFM1)	NP_001361287.1:p.Tyr82Ter
NM_001374359.1:c.138T>G (GFM1)	NP_001361288.1:p.Tyr46Ter
NM_001374360.1:c.138T>G (GFM1)	NP_001361289.1:p.Tyr46Ter
NM_001374361.1:c.21T>G (GFM1)	NP_001361290.1:p.Tyr7Ter
NM_024996.5:c.705T>G (GFM1)	NP_079272.4:p.Tyr235Ter
NR_164499.1:n.813T>G (GFM1)
NR_164500.1:n.813T>G (GFM1)
NR_164501.1:n.358T>G (GFM1)
NR_164502.1:n.696T>G (GFM1)
ENST00000264263.9:c.762T>G (GFM1)	ENSP00000264263.5:p.Tyr254Ter
ENST00000478254.5:c.705T>G (GFM1)	ENSP00000417225.1:p.Tyr235Ter
ENST00000478576.5:c.705T>G (GFM1)	ENSP00000418755.1:p.Tyr235Ter
ENST00000482640.5:c.362-5902A>C (LXN)
ENST00000486715.5:c.705T>G (GFM1)	ENSP00000419038.1:p.Tyr235Ter
XM_006713795.1:c.588T>G (GFM1)	XP_006713858.1:p.Tyr196Ter
XM_006713795.2:c.588T>G (GFM1)	XP_006713858.1:p.Tyr196Ter