Canonical Allele Identifier: CA415177001

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154348880G>A , CM000685.2:g.154348880G>A	GRCh38
NC_000023.10:g.153577248G>A , CM000685.1:g.153577248G>A	GRCh37
NC_000023.9:g.153230442G>A	NCBI36
NG_011506.1:g.30759C>T
NG_011506.2:g.30759C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.7913C>T MANE Select	NP_001104026.1:p.Pro2638Leu
ENST00000369850.10:c.7913C>T MANE Select	ENSP00000358866.3:p.Pro2638Leu
NM_001110556.1:c.7913C>T	NP_001104026.1:p.Pro2638Leu
NM_001456.3:c.7889C>T	NP_001447.2:p.Pro2630Leu
NM_001456.4:c.7889C>T	NP_001447.2:p.Pro2630Leu
ENST00000344736.8:c.7793C>T	ENSP00000358863.3:p.Pro2598Leu
ENST00000360319.8:c.7889C>T	ENSP00000353467.4:p.Pro2630Leu
ENST00000360319.9:c.7889C>T	ENSP00000353467.4:p.Pro2630Leu
ENST00000369850.7:c.7913C>T	ENSP00000358866.3:p.Pro2638Leu
ENST00000369856.7:c.7832C>T	ENSP00000358872.4:p.Pro2611Leu
ENST00000369856.8:c.7832C>T	ENSP00000358872.4:p.Pro2611Leu
ENST00000420627.5:c.7869C>T	ENSP00000408921.1:n.7869C>T
ENST00000422373.5:c.7889C>T	ENSP00000416926.1:p.Pro2630Leu
ENST00000422373.6:c.4694C>T	ENSP00000416926.2:p.Pro1565Leu
ENST00000490936.5:n.5142C>T
ENST00000498411.1:n.68-50C>T
ENST00000610817.4:c.6917C>T	ENSP00000480593.1:p.Pro2306Leu
ENST00000610817.5:c.7970C>T	ENSP00000480593.2:n.7970C>T
ENST00000673639.2:c.280-190C>T
ENST00000676696.1:c.8192C>T	ENSP00000503392.1:n.8192C>T
ENST00000678304.1:n.3631C>T
XM_011531127.1:c.7817C>T	XP_011529429.1:p.Pro2606Leu
XM_011531128.1:c.7793C>T	XP_011529430.1:p.Pro2598Leu
XM_011531129.1:c.7739C>T	XP_011529431.1:p.Pro2580Leu
XM_011531130.1:c.7715C>T	XP_011529432.1:p.Pro2572Leu
XM_011531131.1:c.7712C>T	XP_011529433.1:p.Pro2571Leu