Canonical Allele Identifier: CA2682659

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158665385G>T , CM000665.2:g.158665385G>T	GRCh38
NC_000003.11:g.158383174G>T , CM000665.1:g.158383174G>T	GRCh37
NC_000003.10:g.159865868G>T	NCBI36
NG_008441.1:g.25858G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486715.6:c.1429G>T (GFM1) MANE Select	ENSP00000419038.1:p.Asp477Tyr
ENST00000264263.9:c.1486G>T (GFM1)	ENSP00000264263.5:p.Asp496Tyr
ENST00000478254.5:c.*69G>T (GFM1)	ENSP00000417225.1:n.*69G>T
ENST00000478576.5:c.1429G>T (GFM1)	ENSP00000418755.1:p.Asp477Tyr
ENST00000482640.5:c.361+1627C>A (LXN)
ENST00000486715.5:c.1429G>T (GFM1)	ENSP00000419038.1:p.Asp477Tyr
ENST00000490261.1:n.569G>T (GFM1)
NM_001308164.1:c.1486G>T (GFM1)	NP_001295093.1:p.Asp496Tyr
NM_001308166.1:c.1429G>T (GFM1)	NP_001295095.1:p.Asp477Tyr
NM_024996.5:c.1429G>T (GFM1)	NP_079272.4:p.Asp477Tyr
XM_006713795.1:c.1312G>T (GFM1)	XP_006713858.1:p.Asp438Tyr
XM_006713795.2:c.1312G>T (GFM1)	XP_006713858.1:p.Asp438Tyr
NM_001374355.1:c.1348G>T (GFM1)	NP_001361284.1:p.Asp450Tyr
NM_001374356.1:c.1312G>T (GFM1)	NP_001361285.1:p.Asp438Tyr
NM_001374357.1:c.1204G>T (GFM1)	NP_001361286.1:p.Asp402Tyr
NM_001374358.1:c.970G>T (GFM1)	NP_001361287.1:p.Asp324Tyr
NM_001374359.1:c.862G>T (GFM1)	NP_001361288.1:p.Asp288Tyr
NM_001374360.1:c.862G>T (GFM1)	NP_001361289.1:p.Asp288Tyr
NM_001374361.1:c.745G>T (GFM1)	NP_001361290.1:p.Asp249Tyr
NM_024996.7:c.1429G>T (GFM1) MANE Select	NP_079272.4:p.Asp477Tyr
NR_164499.1:n.1452G>T (GFM1)
NR_164500.1:n.1537G>T (GFM1)
NR_164501.1:n.1082G>T (GFM1)
NR_164502.1:n.1416G>T (GFM1)
NM_001308164.2:c.1486G>T (GFM1)	NP_001295093.1:p.Asp496Tyr
NM_001308166.2:c.1429G>T (GFM1)	NP_001295095.1:p.Asp477Tyr