Canonical Allele Identifier: CA10559900
Community Standard Title: NM_001110556.2(FLNA):c.7361C>T (p.Thr2454Met)
Gene: FLNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154349840G>A , CM000685.2:g.154349840G>A GRCh38
NC_000023.10:g.153578208G>A , CM000685.1:g.153578208G>A GRCh37
NC_000023.9:g.153231402G>A NCBI36
NG_011506.1:g.29799C>T
NG_011506.2:g.29799C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001110556.2:c.7361C>T MANE Select NP_001104026.1:p.Thr2454Met
ENST00000369850.10:c.7361C>T MANE Select ENSP00000358866.3:p.Thr2454Met
NM_001110556.1:c.7361C>T NP_001104026.1:p.Thr2454Met
NM_001456.3:c.7337C>T NP_001447.2:p.Thr2446Met
NM_001456.4:c.7337C>T NP_001447.2:p.Thr2446Met
ENST00000344736.8:c.7241C>T ENSP00000358863.3:p.Thr2414Met
ENST00000360319.8:c.7337C>T ENSP00000353467.4:p.Thr2446Met
ENST00000360319.9:c.7337C>T ENSP00000353467.4:p.Thr2446Met
ENST00000369850.7:c.7361C>T ENSP00000358866.3:p.Thr2454Met
ENST00000369856.7:c.7280C>T ENSP00000358872.4:p.Thr2427Met
ENST00000369856.8:c.7280C>T ENSP00000358872.4:p.Thr2427Met
ENST00000420627.5:c.7317C>T ENSP00000408921.1:n.7317C>T
ENST00000422373.5:c.7337C>T ENSP00000416926.1:p.Thr2446Met
ENST00000422373.6:c.4142C>T ENSP00000416926.2:p.Thr1381Met
ENST00000462590.1:n.516C>T
ENST00000490936.5:n.4590C>T
ENST00000498411.1:n.68-1010C>T
ENST00000498491.5:n.402C>T
ENST00000610817.4:c.6365C>T ENSP00000480593.1:p.Thr2122Met
ENST00000610817.5:c.7418C>T ENSP00000480593.2:n.7418C>T
ENST00000673639.2:c.280-1150C>T
ENST00000676696.1:c.7640C>T ENSP00000503392.1:n.7640C>T
ENST00000678304.1:n.3079C>T
XM_011531127.1:c.7265C>T XP_011529429.1:p.Thr2422Met
XM_011531128.1:c.7241C>T XP_011529430.1:p.Thr2414Met
XM_011531129.1:c.7187C>T XP_011529431.1:p.Thr2396Met
XM_011531130.1:c.7163C>T XP_011529432.1:p.Thr2388Met
XM_011531131.1:c.7160C>T XP_011529433.1:p.Thr2387Met