Canonical Allele Identifier: CA355182558

Gene: GFM1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158690261C>T , CM000665.2:g.158690261C>T	GRCh38
NC_000003.11:g.158408050C>T , CM000665.1:g.158408050C>T	GRCh37
NC_000003.10:g.159890744C>T	NCBI36
NG_008441.1:g.50734C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.2008C>T MANE Select	NP_079272.4:p.Arg670Ter
ENST00000486715.6:c.2008C>T MANE Select	ENSP00000419038.1:p.Arg670Ter
NM_001308164.1:c.2065C>T	NP_001295093.1:p.Arg689Ter
NM_001308164.2:c.2065C>T	NP_001295093.1:p.Arg689Ter
NM_001374355.1:c.1927C>T	NP_001361284.1:p.Arg643Ter
NM_001374356.1:c.1891C>T	NP_001361285.1:p.Arg631Ter
NM_001374357.1:c.1783C>T	NP_001361286.1:p.Arg595Ter
NM_001374358.1:c.1549C>T	NP_001361287.1:p.Arg517Ter
NM_001374359.1:c.1441C>T	NP_001361288.1:p.Arg481Ter
NM_001374360.1:c.1441C>T	NP_001361289.1:p.Arg481Ter
NM_001374361.1:c.1324C>T	NP_001361290.1:p.Arg442Ter
NM_024996.5:c.2008C>T	NP_079272.4:p.Arg670Ter
NR_164499.1:n.2031C>T
NR_164500.1:n.1971C>T
NR_164501.1:n.1516C>T
NR_164502.1:n.1995C>T
ENST00000264263.9:c.2065C>T	ENSP00000264263.5:p.Arg689Ter
ENST00000472383.1:c.39-878C>T
ENST00000477721.1:n.414C>T
ENST00000478254.5:c.*648C>T	ENSP00000417225.1:n.*648C>T
ENST00000486715.5:c.2008C>T	ENSP00000419038.1:p.Arg670Ter
XM_006713795.1:c.1891C>T	XP_006713858.1:p.Arg631Ter
XM_006713795.2:c.1891C>T	XP_006713858.1:p.Arg631Ter