Canonical Allele Identifier: CA2682628

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158662686T>G , CM000665.2:g.158662686T>G	GRCh38
NC_000003.11:g.158380475T>G , CM000665.1:g.158380475T>G	GRCh37
NC_000003.10:g.159863169T>G	NCBI36
NG_008441.1:g.23159T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1380+2T>G (GFM1) MANE Select	NP_079272.4:n.1380+2T>G
ENST00000486715.6:c.1380+2T>G (GFM1) MANE Select	ENSP00000419038.1:n.1380+2T>G
NM_001308164.1:c.1437+2T>G (GFM1)	NP_001295093.1:n.1437+2T>G
NM_001308164.2:c.1437+2T>G (GFM1)	NP_001295093.1:n.1437+2T>G
NM_001308166.1:c.1380+2T>G (GFM1)	NP_001295095.1:n.1380+2T>G
NM_001308166.2:c.1380+2T>G (GFM1)	NP_001295095.1:n.1380+2T>G
NM_001374355.1:c.1299+2T>G (GFM1)	NP_001361284.1:n.1299+2T>G
NM_001374356.1:c.1263+2T>G (GFM1)	NP_001361285.1:n.1263+2T>G
NM_001374357.1:c.1155+2T>G (GFM1)	NP_001361286.1:n.1155+2T>G
NM_001374358.1:c.921+2T>G (GFM1)	NP_001361287.1:n.921+2T>G
NM_001374359.1:c.813+2T>G (GFM1)	NP_001361288.1:n.813+2T>G
NM_001374360.1:c.813+2T>G (GFM1)	NP_001361289.1:n.813+2T>G
NM_001374361.1:c.696+2T>G (GFM1)	NP_001361290.1:n.696+2T>G
NM_024996.5:c.1380+2T>G (GFM1)	NP_079272.4:n.1380+2T>G
NR_164499.1:n.1403+2T>G (GFM1)
NR_164500.1:n.1488+2T>G (GFM1)
NR_164501.1:n.1033+2T>G (GFM1)
NR_164502.1:n.1367+2T>G (GFM1)
ENST00000264263.9:c.1437+2T>G (GFM1)	ENSP00000264263.5:n.1437+2T>G
ENST00000478254.5:c.*20+2T>G (GFM1)	ENSP00000417225.1:n.*20+2T>G
ENST00000478576.5:c.1380+2T>G (GFM1)	ENSP00000418755.1:n.1380+2T>G
ENST00000482640.5:c.361+4326A>C (LXN)
ENST00000486715.5:c.1380+2T>G (GFM1)	ENSP00000419038.1:n.1380+2T>G
ENST00000490261.1:n.520+2T>G (GFM1)
XM_006713795.1:c.1263+2T>G (GFM1)	XP_006713858.1:n.1263+2T>G
XM_006713795.2:c.1263+2T>G (GFM1)	XP_006713858.1:n.1263+2T>G