Canonical Allele Identifier: CA415206627

Gene: FLNA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154354674A>G , CM000685.2:g.154354674A>G	GRCh38
NC_000023.10:g.153583042A>G , CM000685.1:g.153583042A>G	GRCh37
NC_000023.9:g.153236236A>G	NCBI36
NG_011506.1:g.24965T>C
NG_011506.2:g.24965T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001110556.2:c.5255T>C MANE Select	NP_001104026.1:p.Leu1752Pro
ENST00000369850.10:c.5255T>C MANE Select	ENSP00000358866.3:p.Leu1752Pro
NM_001110556.1:c.5255T>C	NP_001104026.1:p.Leu1752Pro
NM_001456.3:c.5231T>C	NP_001447.2:p.Leu1744Pro
NM_001456.4:c.5231T>C	NP_001447.2:p.Leu1744Pro
ENST00000344736.8:c.5193+151T>C	ENSP00000358863.3:n.5193+151T>C
ENST00000360319.8:c.5231T>C	ENSP00000353467.4:p.Leu1744Pro
ENST00000360319.9:c.5231T>C	ENSP00000353467.4:p.Leu1744Pro
ENST00000369850.7:c.5255T>C	ENSP00000358866.3:p.Leu1752Pro
ENST00000369856.7:c.5174T>C	ENSP00000358872.4:p.Leu1725Pro
ENST00000369856.8:c.5174T>C	ENSP00000358872.4:p.Leu1725Pro
ENST00000420627.5:c.5211T>C	ENSP00000408921.1:n.5211T>C
ENST00000422373.5:c.5231T>C	ENSP00000416926.1:p.Leu1744Pro
ENST00000422373.6:c.3161-1999T>C	ENSP00000416926.2:n.3161-1999T>C
ENST00000438732.2:c.103T>C
ENST00000474072.1:n.7T>C
ENST00000490936.5:n.1244T>C
ENST00000610817.4:c.5174T>C	ENSP00000480593.1:p.Leu1725Pro
ENST00000610817.5:c.5312T>C	ENSP00000480593.2:n.5312T>C
ENST00000673639.2:c.280-5984T>C
ENST00000676696.1:c.5534T>C	ENSP00000503392.1:n.5534T>C
ENST00000678304.1:n.434T>C
XM_011531127.1:c.5217+151T>C	XP_011529429.1:n.5217+151T>C
XM_011531128.1:c.5193+151T>C	XP_011529430.1:n.5193+151T>C
XM_011531129.1:c.5255T>C	XP_011529431.1:p.Leu1752Pro
XM_011531130.1:c.5231T>C	XP_011529432.1:p.Leu1744Pro
XM_011531131.1:c.5054T>C	XP_011529433.1:p.Leu1685Pro