Canonical Allele Identifier: CA86528431

Gene: GFM1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158684641C>T , CM000665.2:g.158684641C>T	GRCh38
NC_000003.11:g.158402430C>T , CM000665.1:g.158402430C>T	GRCh37
NC_000003.10:g.159885124C>T	NCBI36
NG_008441.1:g.45114C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1882C>T MANE Select	NP_079272.4:p.Arg628Ter
ENST00000486715.6:c.1882C>T MANE Select	ENSP00000419038.1:p.Arg628Ter
NM_001308164.1:c.1939C>T	NP_001295093.1:p.Arg647Ter
NM_001308164.2:c.1939C>T	NP_001295093.1:p.Arg647Ter
NM_001374355.1:c.1801C>T	NP_001361284.1:p.Arg601Ter
NM_001374356.1:c.1765C>T	NP_001361285.1:p.Arg589Ter
NM_001374357.1:c.1657C>T	NP_001361286.1:p.Arg553Ter
NM_001374358.1:c.1423C>T	NP_001361287.1:p.Arg475Ter
NM_001374359.1:c.1315C>T	NP_001361288.1:p.Arg439Ter
NM_001374360.1:c.1315C>T	NP_001361289.1:p.Arg439Ter
NM_001374361.1:c.1198C>T	NP_001361290.1:p.Arg400Ter
NM_024996.5:c.1882C>T	NP_079272.4:p.Arg628Ter
NR_164499.1:n.1905C>T
NR_164500.1:n.1872+2484C>T
NR_164501.1:n.1417+2484C>T
NR_164502.1:n.1869C>T
ENST00000264263.9:c.1939C>T	ENSP00000264263.5:p.Arg647Ter
ENST00000472383.1:c.11C>T
ENST00000477721.1:n.288C>T
ENST00000478254.5:c.*522C>T	ENSP00000417225.1:n.*522C>T
ENST00000481468.1:n.169C>T
ENST00000486715.5:c.1882C>T	ENSP00000419038.1:p.Arg628Ter
XM_006713795.1:c.1765C>T	XP_006713858.1:p.Arg589Ter
XM_006713795.2:c.1765C>T	XP_006713858.1:p.Arg589Ter