Canonical Allele Identifier: CA415243188

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154365214T>C , CM000685.2:g.154365214T>C	GRCh38
NC_000023.10:g.153593582T>C , CM000685.1:g.153593582T>C	GRCh37
NC_000023.9:g.153246776T>C	NCBI36
NG_011506.1:g.14425A>G
NG_011506.2:g.14425A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.1613A>G MANE Select	NP_001104026.1:p.Tyr538Cys
ENST00000369850.10:c.1613A>G MANE Select	ENSP00000358866.3:p.Tyr538Cys
NM_001110556.1:c.1613A>G	NP_001104026.1:p.Tyr538Cys
NM_001456.3:c.1613A>G	NP_001447.2:p.Tyr538Cys
NM_001456.4:c.1613A>G	NP_001447.2:p.Tyr538Cys
ENST00000344736.8:c.1613A>G	ENSP00000358863.3:p.Tyr538Cys
ENST00000360319.8:c.1613A>G	ENSP00000353467.4:p.Tyr538Cys
ENST00000360319.9:c.1613A>G	ENSP00000353467.4:p.Tyr538Cys
ENST00000369850.7:c.1613A>G	ENSP00000358866.3:p.Tyr538Cys
ENST00000369856.7:c.1532A>G	ENSP00000358872.4:p.Tyr511Cys
ENST00000369856.8:c.1532A>G	ENSP00000358872.4:p.Tyr511Cys
ENST00000420627.5:c.1569A>G	ENSP00000408921.1:p.Val523=
ENST00000422373.5:c.1613A>G	ENSP00000416926.1:p.Tyr538Cys
ENST00000422373.6:c.1613A>G	ENSP00000416926.2:p.Tyr538Cys
ENST00000610817.4:c.1532A>G	ENSP00000480593.1:p.Tyr511Cys
ENST00000610817.5:c.1670A>G	ENSP00000480593.2:n.1670A>G
ENST00000673639.2:c.279+222A>G
ENST00000676696.1:c.1892A>G	ENSP00000503392.1:n.1892A>G
XM_011531127.1:c.1613A>G	XP_011529429.1:p.Tyr538Cys
XM_011531128.1:c.1613A>G	XP_011529430.1:p.Tyr538Cys
XM_011531129.1:c.1613A>G	XP_011529431.1:p.Tyr538Cys
XM_011531130.1:c.1613A>G	XP_011529432.1:p.Tyr538Cys
XM_011531131.1:c.1412A>G	XP_011529433.1:p.Tyr471Cys