Canonical Allele Identifier: CA355178166

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158665336G>C , CM000665.2:g.158665336G>C	GRCh38
NC_000003.11:g.158383125G>C , CM000665.1:g.158383125G>C	GRCh37
NC_000003.10:g.159865819G>C	NCBI36
NG_008441.1:g.25809G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1381-1G>C (GFM1) MANE Select	NP_079272.4:n.1381-1G>C
ENST00000486715.6:c.1381-1G>C (GFM1) MANE Select	ENSP00000419038.1:n.1381-1G>C
NM_001308164.1:c.1438-1G>C (GFM1)	NP_001295093.1:n.1438-1G>C
NM_001308164.2:c.1438-1G>C (GFM1)	NP_001295093.1:n.1438-1G>C
NM_001308166.1:c.1381-1G>C (GFM1)	NP_001295095.1:n.1381-1G>C
NM_001308166.2:c.1381-1G>C (GFM1)	NP_001295095.1:n.1381-1G>C
NM_001374355.1:c.1300-1G>C (GFM1)	NP_001361284.1:n.1300-1G>C
NM_001374356.1:c.1264-1G>C (GFM1)	NP_001361285.1:n.1264-1G>C
NM_001374357.1:c.1156-1G>C (GFM1)	NP_001361286.1:n.1156-1G>C
NM_001374358.1:c.922-1G>C (GFM1)	NP_001361287.1:n.922-1G>C
NM_001374359.1:c.814-1G>C (GFM1)	NP_001361288.1:n.814-1G>C
NM_001374360.1:c.814-1G>C (GFM1)	NP_001361289.1:n.814-1G>C
NM_001374361.1:c.697-1G>C (GFM1)	NP_001361290.1:n.697-1G>C
NM_024996.5:c.1381-1G>C (GFM1)	NP_079272.4:n.1381-1G>C
NR_164499.1:n.1404-1G>C (GFM1)
NR_164500.1:n.1489-1G>C (GFM1)
NR_164501.1:n.1034-1G>C (GFM1)
NR_164502.1:n.1368-1G>C (GFM1)
ENST00000264263.9:c.1438-1G>C (GFM1)	ENSP00000264263.5:n.1438-1G>C
ENST00000478254.5:c.*21-1G>C (GFM1)	ENSP00000417225.1:n.*21-1G>C
ENST00000478576.5:c.1381-1G>C (GFM1)	ENSP00000418755.1:n.1381-1G>C
ENST00000482640.5:c.361+1676C>G (LXN)
ENST00000486715.5:c.1381-1G>C (GFM1)	ENSP00000419038.1:n.1381-1G>C
ENST00000490261.1:n.521-1G>C (GFM1)
XM_006713795.1:c.1264-1G>C (GFM1)	XP_006713858.1:n.1264-1G>C
XM_006713795.2:c.1264-1G>C (GFM1)	XP_006713858.1:n.1264-1G>C