Canonical Allele Identifier: CA10560019
Community Standard Title: NM_001110556.2(FLNA):c.6872G>A (p.Gly2291Asp)
Gene: FLNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154351919C>T , CM000685.2:g.154351919C>T GRCh38
NC_000023.10:g.153580287C>T , CM000685.1:g.153580287C>T GRCh37
NC_000023.9:g.153233481C>T NCBI36
NG_011506.1:g.27720G>A
NG_011506.2:g.27720G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001110556.2:c.6872G>A MANE Select NP_001104026.1:p.Gly2291Asp
ENST00000369850.10:c.6872G>A MANE Select ENSP00000358866.3:p.Gly2291Asp
NM_001110556.1:c.6872G>A NP_001104026.1:p.Gly2291Asp
NM_001456.3:c.6848G>A NP_001447.2:p.Gly2283Asp
NM_001456.4:c.6848G>A NP_001447.2:p.Gly2283Asp
ENST00000344736.8:c.6752G>A ENSP00000358863.3:p.Gly2251Asp
ENST00000360319.8:c.6848G>A ENSP00000353467.4:p.Gly2283Asp
ENST00000360319.9:c.6848G>A ENSP00000353467.4:p.Gly2283Asp
ENST00000369850.7:c.6872G>A ENSP00000358866.3:p.Gly2291Asp
ENST00000369856.7:c.6791G>A ENSP00000358872.4:p.Gly2264Asp
ENST00000369856.8:c.6791G>A ENSP00000358872.4:p.Gly2264Asp
ENST00000420627.5:c.6828G>A ENSP00000408921.1:n.6828G>A
ENST00000422373.5:c.6848G>A ENSP00000416926.1:p.Gly2283Asp
ENST00000422373.6:c.3653G>A ENSP00000416926.2:p.Gly1218Asp
ENST00000444578.1:c.692G>A ENSP00000397824.1:p.Gly231Asp
ENST00000474358.5:n.505G>A
ENST00000490936.5:n.2861G>A
ENST00000498411.1:n.67+898G>A
ENST00000610817.4:c.5876G>A ENSP00000480593.1:p.Gly1959Asp
ENST00000610817.5:c.6929G>A ENSP00000480593.2:n.6929G>A
ENST00000673639.2:c.280-3229G>A
ENST00000676696.1:c.7151G>A ENSP00000503392.1:n.7151G>A
ENST00000678304.1:n.2051G>A
XM_011531127.1:c.6776G>A XP_011529429.1:p.Gly2259Asp
XM_011531128.1:c.6752G>A XP_011529430.1:p.Gly2251Asp
XM_011531129.1:c.6698G>A XP_011529431.1:p.Gly2233Asp
XM_011531130.1:c.6674G>A XP_011529432.1:p.Gly2225Asp
XM_011531131.1:c.6671G>A XP_011529433.1:p.Gly2224Asp