Canonical Allele Identifier: CA2682649

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158665352T>C , CM000665.2:g.158665352T>C	GRCh38
NC_000003.11:g.158383141T>C , CM000665.1:g.158383141T>C	GRCh37
NC_000003.10:g.159865835T>C	NCBI36
NG_008441.1:g.25825T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1396T>C (GFM1) MANE Select	NP_079272.4:p.Phe466Leu
ENST00000486715.6:c.1396T>C (GFM1) MANE Select	ENSP00000419038.1:p.Phe466Leu
NM_001308164.1:c.1453T>C (GFM1)	NP_001295093.1:p.Phe485Leu
NM_001308164.2:c.1453T>C (GFM1)	NP_001295093.1:p.Phe485Leu
NM_001308166.1:c.1396T>C (GFM1)	NP_001295095.1:p.Phe466Leu
NM_001308166.2:c.1396T>C (GFM1)	NP_001295095.1:p.Phe466Leu
NM_001374355.1:c.1315T>C (GFM1)	NP_001361284.1:p.Phe439Leu
NM_001374356.1:c.1279T>C (GFM1)	NP_001361285.1:p.Phe427Leu
NM_001374357.1:c.1171T>C (GFM1)	NP_001361286.1:p.Phe391Leu
NM_001374358.1:c.937T>C (GFM1)	NP_001361287.1:p.Phe313Leu
NM_001374359.1:c.829T>C (GFM1)	NP_001361288.1:p.Phe277Leu
NM_001374360.1:c.829T>C (GFM1)	NP_001361289.1:p.Phe277Leu
NM_001374361.1:c.712T>C (GFM1)	NP_001361290.1:p.Phe238Leu
NM_024996.5:c.1396T>C (GFM1)	NP_079272.4:p.Phe466Leu
NR_164499.1:n.1419T>C (GFM1)
NR_164500.1:n.1504T>C (GFM1)
NR_164501.1:n.1049T>C (GFM1)
NR_164502.1:n.1383T>C (GFM1)
ENST00000264263.9:c.1453T>C (GFM1)	ENSP00000264263.5:p.Phe485Leu
ENST00000478254.5:c.*36T>C (GFM1)	ENSP00000417225.1:n.*36T>C
ENST00000478576.5:c.1396T>C (GFM1)	ENSP00000418755.1:p.Phe466Leu
ENST00000482640.5:c.361+1660A>G (LXN)
ENST00000486715.5:c.1396T>C (GFM1)	ENSP00000419038.1:p.Phe466Leu
ENST00000490261.1:n.536T>C (GFM1)
XM_006713795.1:c.1279T>C (GFM1)	XP_006713858.1:p.Phe427Leu
XM_006713795.2:c.1279T>C (GFM1)	XP_006713858.1:p.Phe427Leu