Canonical Allele Identifier: CA366447226

Gene: FRMD1

Linked Data

• MyVariant Identifiers: chr6:g.168467448C>G (hg19) ; chr6:g.168066768C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.168066768C>G , CM000668.2:g.168066768C>G	GRCh38
NC_000006.11:g.168467448C>G , CM000668.1:g.168467448C>G	GRCh37
NC_000006.10:g.168210297C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283309.11:c.448G>C MANE Select	ENSP00000283309.6:p.Gly150Arg
ENST00000644440.1:c.367G>C	ENSP00000496464.1:p.Gly123Arg
ENST00000646385.1:c.574G>C	ENSP00000494166.1:p.Gly192Arg
ENST00000283309.10:c.448G>C	ENSP00000283309.6:p.Gly150Arg
ENST00000336070.11:n.221G>C
ENST00000358587.5:n.450G>C
ENST00000440994.6:c.244G>C	ENSP00000414115.2:p.Gly82Arg
ENST00000468647.5:c.863G>C	ENSP00000427668.1:n.863G>C
ENST00000506415.1:n.274G>C
ENST00000509157.5:c.626G>C	ENSP00000423552.1:n.626G>C
ENST00000511714.2:c.574G>C	ENSP00000424439.2:p.Gly192Arg
NM_001122841.2:c.244G>C	NP_001116313.1:p.Gly82Arg
NM_024919.4:c.448G>C	NP_079195.3:p.Gly150Arg
NR_110312.1:n.891G>C
XM_011536136.1:c.724G>C	XP_011534438.1:p.Gly242Arg
XM_011536137.1:c.574G>C	XP_011534439.1:p.Gly192Arg
XM_011536138.1:c.388G>C	XP_011534440.1:p.Gly130Arg
XM_011536139.1:c.367G>C	XP_011534441.1:p.Gly123Arg
XM_011536140.1:c.307G>C	XP_011534442.1:p.Gly103Arg
XM_011536141.1:c.250G>C	XP_011534443.1:p.Gly84Arg
XM_011536142.1:c.250G>C	XP_011534444.1:p.Gly84Arg
XM_011536143.1:c.250G>C	XP_011534445.1:p.Gly84Arg
XM_011536144.1:c.250G>C	XP_011534446.1:p.Gly84Arg
XM_011536145.1:c.244G>C	XP_011534447.1:p.Gly82Arg
XM_011536142.2:c.250G>C	XP_011534444.1:p.Gly84Arg
XM_017011317.1:c.574G>C	XP_016866806.1:p.Gly192Arg
NM_001122841.3:c.244G>C	NP_001116313.1:p.Gly82Arg
NM_024919.5:c.448G>C	NP_079195.3:p.Gly150Arg
NM_024919.6:c.448G>C MANE Select	NP_079195.3:p.Gly150Arg
NR_110312.2:n.891G>C
NM_001394681.1:c.184G>C	NP_001381610.1:p.Gly62Arg