Canonical Allele Identifier: CA323904
Community Standard Title: NM_001110556.2(FLNA):c.7520T>C (p.Ile2507Thr)
Gene: FLNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154349681A>G , CM000685.2:g.154349681A>G GRCh38
NC_000023.10:g.153578049A>G , CM000685.1:g.153578049A>G GRCh37
NC_000023.9:g.153231243A>G NCBI36
NG_011506.1:g.29958T>C
NG_011506.2:g.29958T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001110556.2:c.7520T>C MANE Select NP_001104026.1:p.Ile2507Thr
ENST00000369850.10:c.7520T>C MANE Select ENSP00000358866.3:p.Ile2507Thr
NM_001110556.1:c.7520T>C NP_001104026.1:p.Ile2507Thr
NM_001456.3:c.7496T>C NP_001447.2:p.Ile2499Thr
NM_001456.4:c.7496T>C NP_001447.2:p.Ile2499Thr
ENST00000344736.8:c.7400T>C ENSP00000358863.3:p.Ile2467Thr
ENST00000360319.8:c.7496T>C ENSP00000353467.4:p.Ile2499Thr
ENST00000360319.9:c.7496T>C ENSP00000353467.4:p.Ile2499Thr
ENST00000369850.7:c.7520T>C ENSP00000358866.3:p.Ile2507Thr
ENST00000369856.7:c.7439T>C ENSP00000358872.4:p.Ile2480Thr
ENST00000369856.8:c.7439T>C ENSP00000358872.4:p.Ile2480Thr
ENST00000420627.5:c.7476T>C ENSP00000408921.1:n.7476T>C
ENST00000422373.5:c.7496T>C ENSP00000416926.1:p.Ile2499Thr
ENST00000422373.6:c.4301T>C ENSP00000416926.2:p.Ile1434Thr
ENST00000462590.1:n.675T>C
ENST00000490936.5:n.4749T>C
ENST00000498411.1:n.68-851T>C
ENST00000498491.5:n.561T>C
ENST00000610817.4:c.6524T>C ENSP00000480593.1:p.Ile2175Thr
ENST00000610817.5:c.7577T>C ENSP00000480593.2:n.7577T>C
ENST00000673639.2:c.280-991T>C
ENST00000676696.1:c.7799T>C ENSP00000503392.1:n.7799T>C
ENST00000678304.1:n.3238T>C
XM_011531127.1:c.7424T>C XP_011529429.1:p.Ile2475Thr
XM_011531128.1:c.7400T>C XP_011529430.1:p.Ile2467Thr
XM_011531129.1:c.7346T>C XP_011529431.1:p.Ile2449Thr
XM_011531130.1:c.7322T>C XP_011529432.1:p.Ile2441Thr
XM_011531131.1:c.7319T>C XP_011529433.1:p.Ile2440Thr