Canonical Allele Identifier: CA399867376
Gene: FMNL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45234119A>T , CM000679.2:g.45234119A>T GRCh38
NC_000017.10:g.43311486A>T , CM000679.1:g.43311486A>T GRCh37
NC_000017.9:g.40667269A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000587489.6:c.533A>T ENSP00000465474.2:p.Asn178Ile
ENST00000331495.8:c.533A>T MANE Select ENSP00000329219.2:p.Asn178Ile
ENST00000328118.7:c.64-4460A>T ENSP00000327442.4:n.64-4460A>T
ENST00000331495.7:c.533A>T ENSP00000329219.2:p.Asn178Ile
ENST00000585852.5:n.309A>T
ENST00000587856.1:n.236A>T
ENST00000591434.1:n.40A>T
ENST00000592006.5:n.334A>T
NM_005892.3:c.533A>T NP_005883.2:p.Asn178Ile
XM_006722062.2:c.533A>T XP_006722125.1:p.Asn178Ile
XM_006722063.2:c.533A>T XP_006722126.1:p.Asn178Ile
XM_006722064.2:c.503A>T XP_006722127.1:p.Asn168Ile
XM_006722065.2:c.503A>T XP_006722128.1:p.Asn168Ile
XM_006722066.2:c.533A>T XP_006722129.1:p.Asn178Ile
XM_006722069.1:c.533A>T XP_006722132.1:p.Asn178Ile
XM_006722070.2:c.533A>T XP_006722133.1:p.Asn178Ile
XM_011525179.1:c.533A>T XP_011523481.1:p.Asn178Ile
XM_011525180.1:c.440A>T XP_011523482.1:p.Asn147Ile
XM_011525181.1:c.533A>T XP_011523483.1:p.Asn178Ile
XM_011525182.1:c.533A>T XP_011523484.1:p.Asn178Ile
XM_006722062.4:c.533A>T XP_006722125.1:p.Asn178Ile
XM_006722063.4:c.533A>T XP_006722126.1:p.Asn178Ile
XM_006722064.4:c.503A>T XP_006722127.1:p.Asn168Ile
XM_006722065.4:c.503A>T XP_006722128.1:p.Asn168Ile
XM_006722066.4:c.533A>T XP_006722129.1:p.Asn178Ile
XM_006722069.3:c.533A>T XP_006722132.1:p.Asn178Ile
XM_006722070.4:c.533A>T XP_006722133.1:p.Asn178Ile
XM_011525179.3:c.533A>T XP_011523481.1:p.Asn178Ile
XM_011525180.2:c.440A>T XP_011523482.1:p.Asn147Ile
XM_011525182.3:c.533A>T XP_011523484.1:p.Asn178Ile
NM_005892.4:c.533A>T MANE Select NP_005883.3:p.Asn178Ile