Canonical Allele Identifier: CA7456285
Community Standard Title: NM_001277313.2(FMN1):c.4056T>C (p.Phe1352=)
Gene: FMN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.32798878A>G , CM000677.2:g.32798878A>G GRCh38
NC_000015.9:g.33091079A>G , CM000677.1:g.33091079A>G GRCh37
NC_000015.8:g.30878371A>G NCBI36
NG_042863.1:g.400856T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001277313.2:c.4056T>C MANE Select NP_001264242.1:p.Phe1352=
ENST00000616417.5:c.4056T>C MANE Select ENSP00000479134.1:p.Phe1352=
NM_001103184.3:c.3387T>C NP_001096654.1:p.Phe1129=
NM_001103184.4:c.3387T>C NP_001096654.1:p.Phe1129=
NM_001277313.1:c.4056T>C NP_001264242.1:p.Phe1352=
ENST00000334528.13:c.3387T>C ENSP00000333950.9:p.Phe1129=
ENST00000558882.1:n.379T>C
ENST00000559047.5:c.4056T>C ENSP00000454047.1:p.Phe1352=
ENST00000561249.5:c.3762T>C ENSP00000453443.1:p.Phe1254=
ENST00000616417.4:c.4056T>C ENSP00000479134.1:p.Phe1352=
ENST00000672206.1:c.2322T>C ENSP00000500647.1:p.Phe774=
XM_011521504.1:c.4056T>C XP_011519806.1:p.Phe1352=
XM_011521504.3:c.4056T>C XP_011519806.1:p.Phe1352=
XM_011521506.1:c.3762T>C XP_011519808.1:p.Phe1254=
XM_011521506.3:c.3762T>C XP_011519808.1:p.Phe1254=
XM_011521509.1:c.2406T>C XP_011519811.1:p.Phe802=
XM_011521509.3:c.2406T>C XP_011519811.1:p.Phe802=
XM_011521510.1:c.2313T>C XP_011519812.1:p.Phe771=
XM_011521511.1:c.2280T>C XP_011519813.1:p.Phe760=
XM_011521511.3:c.2280T>C XP_011519813.1:p.Phe760=
XM_011521512.1:c.1866T>C XP_011519814.1:p.Phe622=
XM_017022130.2:c.4056T>C XP_016877619.1:p.Phe1352=
XM_017022132.2:c.2322T>C XP_016877621.1:p.Phe774=
XM_017022133.2:c.2226T>C XP_016877622.1:p.Phe742=
XM_017022134.2:c.2223T>C XP_016877623.1:p.Phe741=
XM_017022135.2:c.2046T>C XP_016877624.1:p.Phe682=
XR_002957769.1:n.297-12040A>G
XR_002957770.1:n.297-12040A>G