Canonical Allele Identifier: CA355177168

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158653421C>T , CM000665.2:g.158653421C>T	GRCh38
NC_000003.11:g.158371210C>T , CM000665.1:g.158371210C>T	GRCh37
NC_000003.10:g.159853904C>T	NCBI36
NG_008441.1:g.13894C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.952C>T (GFM1) MANE Select	NP_079272.4:p.Pro318Ser
ENST00000486715.6:c.952C>T (GFM1) MANE Select	ENSP00000419038.1:p.Pro318Ser
NM_001308164.1:c.1009C>T (GFM1)	NP_001295093.1:p.Pro337Ser
NM_001308164.2:c.1009C>T (GFM1)	NP_001295093.1:p.Pro337Ser
NM_001308166.1:c.952C>T (GFM1)	NP_001295095.1:p.Pro318Ser
NM_001308166.2:c.952C>T (GFM1)	NP_001295095.1:p.Pro318Ser
NM_001374355.1:c.1009C>T (GFM1)	NP_001361284.1:p.Pro337Ser
NM_001374356.1:c.835C>T (GFM1)	NP_001361285.1:p.Pro279Ser
NM_001374357.1:c.727C>T (GFM1)	NP_001361286.1:p.Pro243Ser
NM_001374358.1:c.493C>T (GFM1)	NP_001361287.1:p.Pro165Ser
NM_001374359.1:c.385C>T (GFM1)	NP_001361288.1:p.Pro129Ser
NM_001374360.1:c.385C>T (GFM1)	NP_001361289.1:p.Pro129Ser
NM_001374361.1:c.268C>T (GFM1)	NP_001361290.1:p.Pro90Ser
NM_024996.5:c.952C>T (GFM1)	NP_079272.4:p.Pro318Ser
NR_164499.1:n.1060C>T (GFM1)
NR_164500.1:n.1060C>T (GFM1)
NR_164501.1:n.605C>T (GFM1)
NR_164502.1:n.939C>T (GFM1)
ENST00000264263.9:c.1009C>T (GFM1)	ENSP00000264263.5:p.Pro337Ser
ENST00000312756.4:n.161C>T (GFM1)
ENST00000478254.5:c.952C>T (GFM1)	ENSP00000417225.1:p.Pro318Ser
ENST00000478576.5:c.952C>T (GFM1)	ENSP00000418755.1:p.Pro318Ser
ENST00000482640.5:c.362-7212G>A (LXN)
ENST00000486715.5:c.952C>T (GFM1)	ENSP00000419038.1:p.Pro318Ser
XM_006713795.1:c.835C>T (GFM1)	XP_006713858.1:p.Pro279Ser
XM_006713795.2:c.835C>T (GFM1)	XP_006713858.1:p.Pro279Ser