Canonical Allele Identifier: CA2682646
Community Standard Title: NM_024996.7(GFM1):c.1383C>T (p.Asn461=)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.158665339C>T , CM000665.2:g.158665339C>T GRCh38
NC_000003.11:g.158383128C>T , CM000665.1:g.158383128C>T GRCh37
NC_000003.10:g.159865822C>T NCBI36
NG_008441.1:g.25812C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024996.7:c.1383C>T (GFM1) MANE Select NP_079272.4:p.Asn461=
ENST00000486715.6:c.1383C>T (GFM1) MANE Select ENSP00000419038.1:p.Asn461=
NM_001308164.1:c.1440C>T (GFM1) NP_001295093.1:p.Asn480=
NM_001308164.2:c.1440C>T (GFM1) NP_001295093.1:p.Asn480=
NM_001308166.1:c.1383C>T (GFM1) NP_001295095.1:p.Asn461=
NM_001308166.2:c.1383C>T (GFM1) NP_001295095.1:p.Asn461=
NM_001374355.1:c.1302C>T (GFM1) NP_001361284.1:p.Asn434=
NM_001374356.1:c.1266C>T (GFM1) NP_001361285.1:p.Asn422=
NM_001374357.1:c.1158C>T (GFM1) NP_001361286.1:p.Asn386=
NM_001374358.1:c.924C>T (GFM1) NP_001361287.1:p.Asn308=
NM_001374359.1:c.816C>T (GFM1) NP_001361288.1:p.Asn272=
NM_001374360.1:c.816C>T (GFM1) NP_001361289.1:p.Asn272=
NM_001374361.1:c.699C>T (GFM1) NP_001361290.1:p.Asn233=
NM_024996.5:c.1383C>T (GFM1) NP_079272.4:p.Asn461=
NR_164499.1:n.1406C>T (GFM1)
NR_164500.1:n.1491C>T (GFM1)
NR_164501.1:n.1036C>T (GFM1)
NR_164502.1:n.1370C>T (GFM1)
ENST00000264263.9:c.1440C>T (GFM1) ENSP00000264263.5:p.Asn480=
ENST00000478254.5:c.*23C>T (GFM1) ENSP00000417225.1:n.*23C>T
ENST00000478576.5:c.1383C>T (GFM1) ENSP00000418755.1:p.Asn461=
ENST00000482640.5:c.361+1673G>A (LXN)
ENST00000486715.5:c.1383C>T (GFM1) ENSP00000419038.1:p.Asn461=
ENST00000490261.1:n.523C>T (GFM1)
XM_006713795.1:c.1266C>T (GFM1) XP_006713858.1:p.Asn422=
XM_006713795.2:c.1266C>T (GFM1) XP_006713858.1:p.Asn422=