Canonical Allele Identifier: CA10560093

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154352646C>T , CM000685.2:g.154352646C>T	GRCh38
NC_000023.10:g.153581014C>T , CM000685.1:g.153581014C>T	GRCh37
NC_000023.9:g.153234208C>T	NCBI36
NG_011506.1:g.26993G>A
NG_011506.2:g.26993G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.6409G>A MANE Select	NP_001104026.1:p.Glu2137Lys
ENST00000369850.10:c.6409G>A MANE Select	ENSP00000358866.3:p.Glu2137Lys
NM_001110556.1:c.6409G>A	NP_001104026.1:p.Glu2137Lys
NM_001456.3:c.6385G>A	NP_001447.2:p.Glu2129Lys
NM_001456.4:c.6385G>A	NP_001447.2:p.Glu2129Lys
ENST00000344736.8:c.6289G>A	ENSP00000358863.3:p.Glu2097Lys
ENST00000360319.8:c.6385G>A	ENSP00000353467.4:p.Glu2129Lys
ENST00000360319.9:c.6385G>A	ENSP00000353467.4:p.Glu2129Lys
ENST00000369850.7:c.6409G>A	ENSP00000358866.3:p.Glu2137Lys
ENST00000369856.7:c.6328G>A	ENSP00000358872.4:p.Glu2110Lys
ENST00000369856.8:c.6328G>A	ENSP00000358872.4:p.Glu2110Lys
ENST00000415241.1:c.611G>A
ENST00000420627.5:c.6365G>A	ENSP00000408921.1:n.6365G>A
ENST00000422373.5:c.6385G>A	ENSP00000416926.1:p.Glu2129Lys
ENST00000422373.6:c.3190G>A	ENSP00000416926.2:p.Glu1064Lys
ENST00000444578.1:c.322+126G>A	ENSP00000397824.1:n.322+126G>A
ENST00000466325.1:n.720G>A
ENST00000474358.5:n.42G>A
ENST00000490936.5:n.2398G>A
ENST00000498411.1:n.67+171G>A
ENST00000610817.4:c.5845-696G>A	ENSP00000480593.1:n.5845-696G>A
ENST00000610817.5:c.6466G>A	ENSP00000480593.2:n.6466G>A
ENST00000673639.2:c.280-3956G>A
ENST00000676696.1:c.6688G>A	ENSP00000503392.1:n.6688G>A
ENST00000678304.1:n.1588G>A
XM_011531127.1:c.6313G>A	XP_011529429.1:p.Glu2105Lys
XM_011531128.1:c.6289G>A	XP_011529430.1:p.Glu2097Lys
XM_011531129.1:c.6235G>A	XP_011529431.1:p.Glu2079Lys
XM_011531130.1:c.6211G>A	XP_011529432.1:p.Glu2071Lys
XM_011531131.1:c.6208G>A	XP_011529433.1:p.Glu2070Lys