Canonical Allele Identifier: CA366447319

Gene: FRMD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.168066813C>T , CM000668.2:g.168066813C>T	GRCh38
NC_000006.11:g.168467493C>T , CM000668.1:g.168467493C>T	GRCh37
NC_000006.10:g.168210342C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024919.6:c.403G>A MANE Select	NP_079195.3:p.Ala135Thr
ENST00000283309.11:c.403G>A MANE Select	ENSP00000283309.6:p.Ala135Thr
NM_001122841.2:c.199G>A	NP_001116313.1:p.Ala67Thr
NM_001122841.3:c.199G>A	NP_001116313.1:p.Ala67Thr
NM_001394681.1:c.139G>A	NP_001381610.1:p.Ala47Thr
NM_024919.4:c.403G>A	NP_079195.3:p.Ala135Thr
NM_024919.5:c.403G>A	NP_079195.3:p.Ala135Thr
NR_110312.1:n.846G>A
NR_110312.2:n.846G>A
ENST00000283309.10:c.403G>A	ENSP00000283309.6:p.Ala135Thr
ENST00000336070.11:n.176G>A
ENST00000358587.5:n.405G>A
ENST00000440994.6:c.199G>A	ENSP00000414115.2:p.Ala67Thr
ENST00000468647.5:c.818G>A	ENSP00000427668.1:n.818G>A
ENST00000506415.1:n.229G>A
ENST00000509157.5:c.581G>A	ENSP00000423552.1:n.581G>A
ENST00000511714.2:c.529G>A	ENSP00000424439.2:p.Ala177Thr
ENST00000644440.1:c.322G>A	ENSP00000496464.1:p.Ala108Thr
ENST00000646385.1:c.529G>A	ENSP00000494166.1:p.Ala177Thr
XM_011536136.1:c.679G>A	XP_011534438.1:p.Ala227Thr
XM_011536137.1:c.529G>A	XP_011534439.1:p.Ala177Thr
XM_011536138.1:c.343G>A	XP_011534440.1:p.Ala115Thr
XM_011536139.1:c.322G>A	XP_011534441.1:p.Ala108Thr
XM_011536140.1:c.262G>A	XP_011534442.1:p.Ala88Thr
XM_011536141.1:c.205G>A	XP_011534443.1:p.Ala69Thr
XM_011536142.1:c.205G>A	XP_011534444.1:p.Ala69Thr
XM_011536142.2:c.205G>A	XP_011534444.1:p.Ala69Thr
XM_011536143.1:c.205G>A	XP_011534445.1:p.Ala69Thr
XM_011536144.1:c.205G>A	XP_011534446.1:p.Ala69Thr
XM_011536145.1:c.199G>A	XP_011534447.1:p.Ala67Thr
XM_017011317.1:c.529G>A	XP_016866806.1:p.Ala177Thr