Canonical Allele Identifier: CA86513895

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158666361C>T , CM000665.2:g.158666361C>T	GRCh38
NC_000003.11:g.158384150C>T , CM000665.1:g.158384150C>T	GRCh37
NC_000003.10:g.159866844C>T	NCBI36
NG_008441.1:g.26834C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1576C>T (GFM1) MANE Select	NP_079272.4:p.Arg526Ter
ENST00000486715.6:c.1576C>T (GFM1) MANE Select	ENSP00000419038.1:p.Arg526Ter
NM_001308164.1:c.1633C>T (GFM1)	NP_001295093.1:p.Arg545Ter
NM_001308164.2:c.1633C>T (GFM1)	NP_001295093.1:p.Arg545Ter
NM_001308166.1:c.1576C>T (GFM1)	NP_001295095.1:p.Arg526Ter
NM_001308166.2:c.1576C>T (GFM1)	NP_001295095.1:p.Arg526Ter
NM_001374355.1:c.1495C>T (GFM1)	NP_001361284.1:p.Arg499Ter
NM_001374356.1:c.1459C>T (GFM1)	NP_001361285.1:p.Arg487Ter
NM_001374357.1:c.1351C>T (GFM1)	NP_001361286.1:p.Arg451Ter
NM_001374358.1:c.1117C>T (GFM1)	NP_001361287.1:p.Arg373Ter
NM_001374359.1:c.1009C>T (GFM1)	NP_001361288.1:p.Arg337Ter
NM_001374360.1:c.1009C>T (GFM1)	NP_001361289.1:p.Arg337Ter
NM_001374361.1:c.892C>T (GFM1)	NP_001361290.1:p.Arg298Ter
NM_024996.5:c.1576C>T (GFM1)	NP_079272.4:p.Arg526Ter
NR_164499.1:n.1599C>T (GFM1)
NR_164500.1:n.1684C>T (GFM1)
NR_164501.1:n.1229C>T (GFM1)
NR_164502.1:n.1563C>T (GFM1)
ENST00000264263.9:c.1633C>T (GFM1)	ENSP00000264263.5:p.Arg545Ter
ENST00000478254.5:c.*216C>T (GFM1)	ENSP00000417225.1:n.*216C>T
ENST00000478576.5:c.1576C>T (GFM1)	ENSP00000418755.1:p.Arg526Ter
ENST00000482640.5:c.361+651G>A (LXN)
ENST00000486715.5:c.1576C>T (GFM1)	ENSP00000419038.1:p.Arg526Ter
XM_006713795.1:c.1459C>T (GFM1)	XP_006713858.1:p.Arg487Ter
XM_006713795.2:c.1459C>T (GFM1)	XP_006713858.1:p.Arg487Ter