Canonical Allele Identifier: CA2683119

Gene: GFM1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158691354A>G , CM000665.2:g.158691354A>G	GRCh38
NC_000003.11:g.158409143A>G , CM000665.1:g.158409143A>G	GRCh37
NC_000003.10:g.159891837A>G	NCBI36
NG_008441.1:g.51827A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.2143A>G MANE Select	NP_079272.4:p.Met715Val
ENST00000486715.6:c.2143A>G MANE Select	ENSP00000419038.1:p.Met715Val
NM_001308164.1:c.2200A>G	NP_001295093.1:p.Met734Val
NM_001308164.2:c.2200A>G	NP_001295093.1:p.Met734Val
NM_001374355.1:c.2062A>G	NP_001361284.1:p.Met688Val
NM_001374356.1:c.2026A>G	NP_001361285.1:p.Met676Val
NM_001374357.1:c.1918A>G	NP_001361286.1:p.Met640Val
NM_001374358.1:c.1684A>G	NP_001361287.1:p.Met562Val
NM_001374359.1:c.1576A>G	NP_001361288.1:p.Met526Val
NM_001374360.1:c.1522A>G	NP_001361289.1:p.Met508Val
NM_001374361.1:c.1459A>G	NP_001361290.1:p.Met487Val
NM_024996.5:c.2143A>G	NP_079272.4:p.Met715Val
NR_164499.1:n.2166A>G
NR_164500.1:n.2106A>G
NR_164501.1:n.1651A>G
NR_164502.1:n.2130A>G
ENST00000264263.9:c.2200A>G	ENSP00000264263.5:p.Met734Val
ENST00000472383.1:c.111A>G
ENST00000478254.5:c.*783A>G	ENSP00000417225.1:n.*783A>G
ENST00000486715.5:c.2143A>G	ENSP00000419038.1:p.Met715Val
XM_006713795.1:c.2026A>G	XP_006713858.1:p.Met676Val
XM_006713795.2:c.2026A>G	XP_006713858.1:p.Met676Val