Canonical Allele Identifier: CA10559869
Community Standard Title: NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys)
Gene: FLNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154349560G>A , CM000685.2:g.154349560G>A GRCh38
NC_000023.10:g.153577928G>A , CM000685.1:g.153577928G>A GRCh37
NC_000023.9:g.153231122G>A NCBI36
NG_011506.1:g.30079C>T
NG_011506.2:g.30079C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001110556.2:c.7558C>T MANE Select NP_001104026.1:p.Arg2520Cys
ENST00000369850.10:c.7558C>T MANE Select ENSP00000358866.3:p.Arg2520Cys
NM_001110556.1:c.7558C>T NP_001104026.1:p.Arg2520Cys
NM_001456.3:c.7534C>T NP_001447.2:p.Arg2512Cys
NM_001456.4:c.7534C>T NP_001447.2:p.Arg2512Cys
ENST00000344736.8:c.7438C>T ENSP00000358863.3:p.Arg2480Cys
ENST00000360319.8:c.7534C>T ENSP00000353467.4:p.Arg2512Cys
ENST00000360319.9:c.7534C>T ENSP00000353467.4:p.Arg2512Cys
ENST00000369850.7:c.7558C>T ENSP00000358866.3:p.Arg2520Cys
ENST00000369856.7:c.7477C>T ENSP00000358872.4:p.Arg2493Cys
ENST00000369856.8:c.7477C>T ENSP00000358872.4:p.Arg2493Cys
ENST00000420627.5:c.7514C>T ENSP00000408921.1:n.7514C>T
ENST00000422373.5:c.7534C>T ENSP00000416926.1:p.Arg2512Cys
ENST00000422373.6:c.4339C>T ENSP00000416926.2:p.Arg1447Cys
ENST00000462590.1:n.713C>T
ENST00000490936.5:n.4787C>T
ENST00000498411.1:n.68-730C>T
ENST00000498491.5:n.599C>T
ENST00000610817.4:c.6562C>T ENSP00000480593.1:p.Arg2188Cys
ENST00000610817.5:c.7615C>T ENSP00000480593.2:n.7615C>T
ENST00000673639.2:c.280-870C>T
ENST00000676696.1:c.7837C>T ENSP00000503392.1:n.7837C>T
ENST00000678304.1:n.3276C>T
XM_011531127.1:c.7462C>T XP_011529429.1:p.Arg2488Cys
XM_011531128.1:c.7438C>T XP_011529430.1:p.Arg2480Cys
XM_011531129.1:c.7384C>T XP_011529431.1:p.Arg2462Cys
XM_011531130.1:c.7360C>T XP_011529432.1:p.Arg2454Cys
XM_011531131.1:c.7357C>T XP_011529433.1:p.Arg2453Cys