Canonical Allele Identifier: CA355177723

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158659031T>C , CM000665.2:g.158659031T>C	GRCh38
NC_000003.11:g.158376820T>C , CM000665.1:g.158376820T>C	GRCh37
NC_000003.10:g.159859514T>C	NCBI36
NG_008441.1:g.19504T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1193T>C (GFM1) MANE Select	NP_079272.4:p.Leu398Pro
ENST00000486715.6:c.1193T>C (GFM1) MANE Select	ENSP00000419038.1:p.Leu398Pro
NM_001308164.1:c.1250T>C (GFM1)	NP_001295093.1:p.Leu417Pro
NM_001308164.2:c.1250T>C (GFM1)	NP_001295093.1:p.Leu417Pro
NM_001308166.1:c.1193T>C (GFM1)	NP_001295095.1:p.Leu398Pro
NM_001308166.2:c.1193T>C (GFM1)	NP_001295095.1:p.Leu398Pro
NM_001374355.1:c.1141-1843T>C (GFM1)	NP_001361284.1:n.1141-1843T>C
NM_001374356.1:c.1076T>C (GFM1)	NP_001361285.1:p.Leu359Pro
NM_001374357.1:c.968T>C (GFM1)	NP_001361286.1:p.Leu323Pro
NM_001374358.1:c.734T>C (GFM1)	NP_001361287.1:p.Leu245Pro
NM_001374359.1:c.626T>C (GFM1)	NP_001361288.1:p.Leu209Pro
NM_001374360.1:c.626T>C (GFM1)	NP_001361289.1:p.Leu209Pro
NM_001374361.1:c.509T>C (GFM1)	NP_001361290.1:p.Leu170Pro
NM_024996.5:c.1193T>C (GFM1)	NP_079272.4:p.Leu398Pro
NR_164499.1:n.1216T>C (GFM1)
NR_164500.1:n.1301T>C (GFM1)
NR_164501.1:n.846T>C (GFM1)
NR_164502.1:n.1180T>C (GFM1)
ENST00000264263.9:c.1250T>C (GFM1)	ENSP00000264263.5:p.Leu417Pro
ENST00000478254.5:c.1193T>C (GFM1)	ENSP00000417225.1:p.Leu398Pro
ENST00000478576.5:c.1193T>C (GFM1)	ENSP00000418755.1:p.Leu398Pro
ENST00000482640.5:c.361+7981A>G (LXN)
ENST00000486715.5:c.1193T>C (GFM1)	ENSP00000419038.1:p.Leu398Pro
XM_006713795.1:c.1076T>C (GFM1)	XP_006713858.1:p.Leu359Pro
XM_006713795.2:c.1076T>C (GFM1)	XP_006713858.1:p.Leu359Pro