Canonical Allele Identifier: CA10560396
Community Standard Title: NM_001110556.2(FLNA):c.5062G>A (p.Val1688Met)
Gene: FLNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154354980C>T , CM000685.2:g.154354980C>T GRCh38
NC_000023.10:g.153583348C>T , CM000685.1:g.153583348C>T GRCh37
NC_000023.9:g.153236542C>T NCBI36
NG_011506.1:g.24659G>A
NG_011506.2:g.24659G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001110556.2:c.5062G>A MANE Select NP_001104026.1:p.Val1688Met
ENST00000369850.10:c.5062G>A MANE Select ENSP00000358866.3:p.Val1688Met
NM_001110556.1:c.5062G>A NP_001104026.1:p.Val1688Met
NM_001456.3:c.5038G>A NP_001447.2:p.Val1680Met
NM_001456.4:c.5038G>A NP_001447.2:p.Val1680Met
ENST00000344736.8:c.5038G>A ENSP00000358863.3:p.Val1680Met
ENST00000360319.8:c.5038G>A ENSP00000353467.4:p.Val1680Met
ENST00000360319.9:c.5038G>A ENSP00000353467.4:p.Val1680Met
ENST00000369850.7:c.5062G>A ENSP00000358866.3:p.Val1688Met
ENST00000369856.7:c.4981G>A ENSP00000358872.4:p.Val1661Met
ENST00000369856.8:c.4981G>A ENSP00000358872.4:p.Val1661Met
ENST00000420627.5:c.5018G>A ENSP00000408921.1:n.5018G>A
ENST00000422373.5:c.5038G>A ENSP00000416926.1:p.Val1680Met
ENST00000422373.6:c.3161-2305G>A ENSP00000416926.2:n.3161-2305G>A
ENST00000490936.5:n.1051G>A
ENST00000610817.4:c.4981G>A ENSP00000480593.1:p.Val1661Met
ENST00000610817.5:c.5119G>A ENSP00000480593.2:n.5119G>A
ENST00000673639.2:c.280-6290G>A
ENST00000676696.1:c.5341G>A ENSP00000503392.1:n.5341G>A
ENST00000678304.1:n.241G>A
XM_011531127.1:c.5062G>A XP_011529429.1:p.Val1688Met
XM_011531128.1:c.5038G>A XP_011529430.1:p.Val1680Met
XM_011531129.1:c.5062G>A XP_011529431.1:p.Val1688Met
XM_011531130.1:c.5038G>A XP_011529432.1:p.Val1680Met
XM_011531131.1:c.4861G>A XP_011529433.1:p.Val1621Met