Canonical Allele Identifier: CA355177119

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158653398T>G , CM000665.2:g.158653398T>G	GRCh38
NC_000003.11:g.158371187T>G , CM000665.1:g.158371187T>G	GRCh37
NC_000003.10:g.159853881T>G	NCBI36
NG_008441.1:g.13871T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.929T>G (GFM1) MANE Select	NP_079272.4:p.Leu310Ter
ENST00000486715.6:c.929T>G (GFM1) MANE Select	ENSP00000419038.1:p.Leu310Ter
NM_001308164.1:c.986T>G (GFM1)	NP_001295093.1:p.Leu329Ter
NM_001308164.2:c.986T>G (GFM1)	NP_001295093.1:p.Leu329Ter
NM_001308166.1:c.929T>G (GFM1)	NP_001295095.1:p.Leu310Ter
NM_001308166.2:c.929T>G (GFM1)	NP_001295095.1:p.Leu310Ter
NM_001374355.1:c.986T>G (GFM1)	NP_001361284.1:p.Leu329Ter
NM_001374356.1:c.812T>G (GFM1)	NP_001361285.1:p.Leu271Ter
NM_001374357.1:c.704T>G (GFM1)	NP_001361286.1:p.Leu235Ter
NM_001374358.1:c.470T>G (GFM1)	NP_001361287.1:p.Leu157Ter
NM_001374359.1:c.362T>G (GFM1)	NP_001361288.1:p.Leu121Ter
NM_001374360.1:c.362T>G (GFM1)	NP_001361289.1:p.Leu121Ter
NM_001374361.1:c.245T>G (GFM1)	NP_001361290.1:p.Leu82Ter
NM_024996.5:c.929T>G (GFM1)	NP_079272.4:p.Leu310Ter
NR_164499.1:n.1037T>G (GFM1)
NR_164500.1:n.1037T>G (GFM1)
NR_164501.1:n.582T>G (GFM1)
NR_164502.1:n.916T>G (GFM1)
ENST00000264263.9:c.986T>G (GFM1)	ENSP00000264263.5:p.Leu329Ter
ENST00000312756.4:n.138T>G (GFM1)
ENST00000478254.5:c.929T>G (GFM1)	ENSP00000417225.1:p.Leu310Ter
ENST00000478576.5:c.929T>G (GFM1)	ENSP00000418755.1:p.Leu310Ter
ENST00000482640.5:c.362-7189A>C (LXN)
ENST00000486715.5:c.929T>G (GFM1)	ENSP00000419038.1:p.Leu310Ter
XM_006713795.1:c.812T>G (GFM1)	XP_006713858.1:p.Leu271Ter
XM_006713795.2:c.812T>G (GFM1)	XP_006713858.1:p.Leu271Ter