Canonical Allele Identifier: CA355182450

Gene: GFM1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158690234C>T , CM000665.2:g.158690234C>T	GRCh38
NC_000003.11:g.158408023C>T , CM000665.1:g.158408023C>T	GRCh37
NC_000003.10:g.159890717C>T	NCBI36
NG_008441.1:g.50707C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1981C>T MANE Select	NP_079272.4:p.Gln661Ter
ENST00000486715.6:c.1981C>T MANE Select	ENSP00000419038.1:p.Gln661Ter
NM_001308164.1:c.2038C>T	NP_001295093.1:p.Gln680Ter
NM_001308164.2:c.2038C>T	NP_001295093.1:p.Gln680Ter
NM_001374355.1:c.1900C>T	NP_001361284.1:p.Gln634Ter
NM_001374356.1:c.1864C>T	NP_001361285.1:p.Gln622Ter
NM_001374357.1:c.1756C>T	NP_001361286.1:p.Gln586Ter
NM_001374358.1:c.1522C>T	NP_001361287.1:p.Gln508Ter
NM_001374359.1:c.1414C>T	NP_001361288.1:p.Gln472Ter
NM_001374360.1:c.1414C>T	NP_001361289.1:p.Gln472Ter
NM_001374361.1:c.1297C>T	NP_001361290.1:p.Gln433Ter
NM_024996.5:c.1981C>T	NP_079272.4:p.Gln661Ter
NR_164499.1:n.2004C>T
NR_164500.1:n.1944C>T
NR_164501.1:n.1489C>T
NR_164502.1:n.1968C>T
ENST00000264263.9:c.2038C>T	ENSP00000264263.5:p.Gln680Ter
ENST00000472383.1:c.39-905C>T
ENST00000477721.1:n.387C>T
ENST00000478254.5:c.*621C>T	ENSP00000417225.1:n.*621C>T
ENST00000486715.5:c.1981C>T	ENSP00000419038.1:p.Gln661Ter
XM_006713795.1:c.1864C>T	XP_006713858.1:p.Gln622Ter
XM_006713795.2:c.1864C>T	XP_006713858.1:p.Gln622Ter