Canonical Allele Identifier: CA2683001

Gene: GFM1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158684581C>T , CM000665.2:g.158684581C>T	GRCh38
NC_000003.11:g.158402370C>T , CM000665.1:g.158402370C>T	GRCh37
NC_000003.10:g.159885064C>T	NCBI36
NG_008441.1:g.45054C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1822C>T MANE Select	NP_079272.4:p.Arg608Trp
ENST00000486715.6:c.1822C>T MANE Select	ENSP00000419038.1:p.Arg608Trp
NM_001308164.1:c.1879C>T	NP_001295093.1:p.Arg627Trp
NM_001308164.2:c.1879C>T	NP_001295093.1:p.Arg627Trp
NM_001374355.1:c.1741C>T	NP_001361284.1:p.Arg581Trp
NM_001374356.1:c.1705C>T	NP_001361285.1:p.Arg569Trp
NM_001374357.1:c.1597C>T	NP_001361286.1:p.Arg533Trp
NM_001374358.1:c.1363C>T	NP_001361287.1:p.Arg455Trp
NM_001374359.1:c.1255C>T	NP_001361288.1:p.Arg419Trp
NM_001374360.1:c.1255C>T	NP_001361289.1:p.Arg419Trp
NM_001374361.1:c.1138C>T	NP_001361290.1:p.Arg380Trp
NM_024996.5:c.1822C>T	NP_079272.4:p.Arg608Trp
NR_164499.1:n.1845C>T
NR_164500.1:n.1872+2424C>T
NR_164501.1:n.1417+2424C>T
NR_164502.1:n.1809C>T
ENST00000264263.9:c.1879C>T	ENSP00000264263.5:p.Arg627Trp
ENST00000477721.1:n.228C>T
ENST00000478254.5:c.*462C>T	ENSP00000417225.1:n.*462C>T
ENST00000481468.1:n.109C>T
ENST00000486715.5:c.1822C>T	ENSP00000419038.1:p.Arg608Trp
XM_006713795.1:c.1705C>T	XP_006713858.1:p.Arg569Trp
XM_006713795.2:c.1705C>T	XP_006713858.1:p.Arg569Trp