Canonical Allele Identifier: CA415242540

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154364890C>A , CM000685.2:g.154364890C>A	GRCh38
NC_000023.10:g.153593258C>A , CM000685.1:g.153593258C>A	GRCh37
NC_000023.9:g.153246452C>A	NCBI36
NG_011506.1:g.14749G>T
NG_011506.2:g.14749G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.1759G>T MANE Select	NP_001104026.1:p.Glu587Ter
ENST00000369850.10:c.1759G>T MANE Select	ENSP00000358866.3:p.Glu587Ter
NM_001110556.1:c.1759G>T	NP_001104026.1:p.Glu587Ter
NM_001456.3:c.1759G>T	NP_001447.2:p.Glu587Ter
NM_001456.4:c.1759G>T	NP_001447.2:p.Glu587Ter
ENST00000344736.8:c.1759G>T	ENSP00000358863.3:p.Glu587Ter
ENST00000360319.8:c.1759G>T	ENSP00000353467.4:p.Glu587Ter
ENST00000360319.9:c.1759G>T	ENSP00000353467.4:p.Glu587Ter
ENST00000369850.7:c.1759G>T	ENSP00000358866.3:p.Glu587Ter
ENST00000369856.7:c.1678G>T	ENSP00000358872.4:p.Glu560Ter
ENST00000369856.8:c.1678G>T	ENSP00000358872.4:p.Glu560Ter
ENST00000420627.5:c.1715G>T	ENSP00000408921.1:p.Gly572Val
ENST00000422373.5:c.1759G>T	ENSP00000416926.1:p.Glu587Ter
ENST00000422373.6:c.1759G>T	ENSP00000416926.2:p.Glu587Ter
ENST00000465144.1:n.140G>T
ENST00000610817.4:c.1678G>T	ENSP00000480593.1:p.Glu560Ter
ENST00000610817.5:c.1816G>T	ENSP00000480593.2:n.1816G>T
ENST00000673639.2:c.279+546G>T
ENST00000676696.1:c.2038G>T	ENSP00000503392.1:n.2038G>T
XM_011531127.1:c.1759G>T	XP_011529429.1:p.Glu587Ter
XM_011531128.1:c.1759G>T	XP_011529430.1:p.Glu587Ter
XM_011531129.1:c.1759G>T	XP_011529431.1:p.Glu587Ter
XM_011531130.1:c.1759G>T	XP_011529432.1:p.Glu587Ter
XM_011531131.1:c.1558G>T	XP_011529433.1:p.Glu520Ter