Canonical Allele Identifier: CA355178541

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158666331T>C , CM000665.2:g.158666331T>C	GRCh38
NC_000003.11:g.158384120T>C , CM000665.1:g.158384120T>C	GRCh37
NC_000003.10:g.159866814T>C	NCBI36
NG_008441.1:g.26804T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1546T>C (GFM1) MANE Select	NP_079272.4:p.Cys516Arg
ENST00000486715.6:c.1546T>C (GFM1) MANE Select	ENSP00000419038.1:p.Cys516Arg
NM_001308164.1:c.1603T>C (GFM1)	NP_001295093.1:p.Cys535Arg
NM_001308164.2:c.1603T>C (GFM1)	NP_001295093.1:p.Cys535Arg
NM_001308166.1:c.1546T>C (GFM1)	NP_001295095.1:p.Cys516Arg
NM_001308166.2:c.1546T>C (GFM1)	NP_001295095.1:p.Cys516Arg
NM_001374355.1:c.1465T>C (GFM1)	NP_001361284.1:p.Cys489Arg
NM_001374356.1:c.1429T>C (GFM1)	NP_001361285.1:p.Cys477Arg
NM_001374357.1:c.1321T>C (GFM1)	NP_001361286.1:p.Cys441Arg
NM_001374358.1:c.1087T>C (GFM1)	NP_001361287.1:p.Cys363Arg
NM_001374359.1:c.979T>C (GFM1)	NP_001361288.1:p.Cys327Arg
NM_001374360.1:c.979T>C (GFM1)	NP_001361289.1:p.Cys327Arg
NM_001374361.1:c.862T>C (GFM1)	NP_001361290.1:p.Cys288Arg
NM_024996.5:c.1546T>C (GFM1)	NP_079272.4:p.Cys516Arg
NR_164499.1:n.1569T>C (GFM1)
NR_164500.1:n.1654T>C (GFM1)
NR_164501.1:n.1199T>C (GFM1)
NR_164502.1:n.1533T>C (GFM1)
ENST00000264263.9:c.1603T>C (GFM1)	ENSP00000264263.5:p.Cys535Arg
ENST00000478254.5:c.*186T>C (GFM1)	ENSP00000417225.1:n.*186T>C
ENST00000478576.5:c.1546T>C (GFM1)	ENSP00000418755.1:p.Cys516Arg
ENST00000482640.5:c.361+681A>G (LXN)
ENST00000486715.5:c.1546T>C (GFM1)	ENSP00000419038.1:p.Cys516Arg
XM_006713795.1:c.1429T>C (GFM1)	XP_006713858.1:p.Cys477Arg
XM_006713795.2:c.1429T>C (GFM1)	XP_006713858.1:p.Cys477Arg