Canonical Allele Identifier: CA10561214
Community Standard Title: NM_001110556.2(FLNA):c.1270A>G (p.Met424Val)
Gene: FLNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154366183T>C , CM000685.2:g.154366183T>C GRCh38
NC_000023.10:g.153594551T>C , CM000685.1:g.153594551T>C GRCh37
NC_000023.9:g.153247745T>C NCBI36
NG_011506.1:g.13456A>G
NG_011506.2:g.13456A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001110556.2:c.1270A>G MANE Select NP_001104026.1:p.Met424Val
ENST00000369850.10:c.1270A>G MANE Select ENSP00000358866.3:p.Met424Val
NM_001110556.1:c.1270A>G NP_001104026.1:p.Met424Val
NM_001456.3:c.1270A>G NP_001447.2:p.Met424Val
NM_001456.4:c.1270A>G NP_001447.2:p.Met424Val
ENST00000344736.8:c.1270A>G ENSP00000358863.3:p.Met424Val
ENST00000360319.8:c.1270A>G ENSP00000353467.4:p.Met424Val
ENST00000360319.9:c.1270A>G ENSP00000353467.4:p.Met424Val
ENST00000369850.7:c.1270A>G ENSP00000358866.3:p.Met424Val
ENST00000369856.7:c.1189A>G ENSP00000358872.4:p.Met397Val
ENST00000369856.8:c.1189A>G ENSP00000358872.4:p.Met397Val
ENST00000420627.5:c.1228A>G ENSP00000408921.1:p.Met410Val
ENST00000422373.5:c.1270A>G ENSP00000416926.1:p.Met424Val
ENST00000422373.6:c.1270A>G ENSP00000416926.2:p.Met424Val
ENST00000610817.4:c.1189A>G ENSP00000480593.1:p.Met397Val
ENST00000610817.5:c.1270A>G ENSP00000480593.2:p.Met424Val
ENST00000673639.2:c.69A>G
ENST00000676696.1:c.1270A>G ENSP00000503392.1:p.Met424Val
XM_011531127.1:c.1270A>G XP_011529429.1:p.Met424Val
XM_011531128.1:c.1270A>G XP_011529430.1:p.Met424Val
XM_011531129.1:c.1270A>G XP_011529431.1:p.Met424Val
XM_011531130.1:c.1270A>G XP_011529432.1:p.Met424Val
XM_011531131.1:c.1228+125A>G XP_011529433.1:n.1228+125A>G