Canonical Allele Identifier: CA355181033

Gene: GFM1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158682035C>T , CM000665.2:g.158682035C>T	GRCh38
NC_000003.11:g.158399824C>T , CM000665.1:g.158399824C>T	GRCh37
NC_000003.10:g.159882518C>T	NCBI36
NG_008441.1:g.42508C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1642C>T MANE Select	NP_079272.4:p.Gln548Ter
ENST00000486715.6:c.1642C>T MANE Select	ENSP00000419038.1:p.Gln548Ter
NM_001308164.1:c.1699C>T	NP_001295093.1:p.Gln567Ter
NM_001308164.2:c.1699C>T	NP_001295093.1:p.Gln567Ter
NM_001308166.1:c.1642C>T	NP_001295095.1:p.Gln548Ter
NM_001308166.2:c.1642C>T	NP_001295095.1:p.Gln548Ter
NM_001374355.1:c.1561C>T	NP_001361284.1:p.Gln521Ter
NM_001374356.1:c.1525C>T	NP_001361285.1:p.Gln509Ter
NM_001374357.1:c.1417C>T	NP_001361286.1:p.Gln473Ter
NM_001374358.1:c.1183C>T	NP_001361287.1:p.Gln395Ter
NM_001374359.1:c.1075C>T	NP_001361288.1:p.Gln359Ter
NM_001374360.1:c.1075C>T	NP_001361289.1:p.Gln359Ter
NM_001374361.1:c.958C>T	NP_001361290.1:p.Gln320Ter
NM_024996.5:c.1642C>T	NP_079272.4:p.Gln548Ter
NR_164499.1:n.1665C>T
NR_164500.1:n.1750C>T
NR_164501.1:n.1295C>T
NR_164502.1:n.1629C>T
ENST00000264263.9:c.1699C>T	ENSP00000264263.5:p.Gln567Ter
ENST00000477721.1:n.48C>T
ENST00000478254.5:c.*282C>T	ENSP00000417225.1:n.*282C>T
ENST00000478576.5:c.1642C>T	ENSP00000418755.1:p.Gln548Ter
ENST00000486715.5:c.1642C>T	ENSP00000419038.1:p.Gln548Ter
XM_006713795.1:c.1525C>T	XP_006713858.1:p.Gln509Ter
XM_006713795.2:c.1525C>T	XP_006713858.1:p.Gln509Ter