Canonical Allele Identifier: CA399000353
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31261782A>C , CM000679.2:g.31261782A>C GRCh38
NC_000017.10:g.29588800A>C , CM000679.1:g.29588800A>C GRCh37
NC_000017.9:g.26612926A>C NCBI36
NG_009018.1:g.171806A>C , LRG_214:g.171806A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.451A>C ENSP00000492721.2:p.Ser151Arg
ENST00000696138.1:c.4631A>C ENSP00000512431.1:p.Glu1544Ala
ENST00000696140.1:n.755A>C
ENST00000696141.1:c.640A>C
ENST00000687863.1:n.1294A>C
ENST00000691014.1:c.4679A>C ENSP00000510595.1:p.Glu1560Ala
ENST00000358273.9:c.4649A>C MANE Select ENSP00000351015.4:p.Glu1550Ala
ENST00000356175.7:c.4586A>C ENSP00000348498.3:p.Glu1529Ala
ENST00000358273.8:c.4649A>C ENSP00000351015.4:p.Glu1550Ala
ENST00000456735.6:c.3584A>C ENSP00000389907.2:p.Glu1195Ala
ENST00000466819.5:c.1165A>C
ENST00000479614.1:c.1102A>C
ENST00000493220.5:n.3122A>C
ENST00000579081.5:c.4688A>C ENSP00000462408.1:p.Glu1563Ala
NM_000267.3:c.4586A>C , LRG_214t1:c.4586A>C NP_000258.1:p.Glu1529Ala
NM_001042492.2:c.4649A>C , LRG_214t2:c.4649A>C NP_001035957.1:p.Glu1550Ala
XM_005257983.1:c.4649A>C XP_005258040.1:p.Glu1550Ala
XM_005257984.1:c.4586A>C XP_005258041.1:p.Glu1529Ala
XM_006721922.1:c.4679A>C XP_006721985.1:p.Glu1560Ala
XM_006721923.2:c.4640A>C XP_006721986.1:p.Glu1547Ala
XM_006721924.1:c.4679A>C XP_006721987.1:p.Glu1560Ala
XM_006721925.1:c.4616A>C XP_006721988.1:p.Glu1539Ala
XM_006721926.2:c.4679A>C XP_006721989.1:p.Glu1560Ala
XM_006721927.1:c.4679A>C XP_006721990.1:p.Glu1560Ala
XM_006721928.2:c.4679A>C XP_006721991.1:p.Glu1560Ala
XM_011524852.1:c.4676A>C XP_011523154.1:p.Glu1559Ala
XM_011524853.1:c.4640A>C XP_011523155.1:p.Glu1547Ala
XM_011524854.1:c.4640A>C XP_011523156.1:p.Glu1547Ala
XM_011524855.1:c.4640A>C XP_011523157.1:p.Glu1547Ala
XM_011524856.1:c.4640A>C XP_011523158.1:p.Glu1547Ala
XM_011524857.1:c.4679A>C XP_011523159.1:p.Glu1560Ala
NM_001042492.3:c.4649A>C MANE Select NP_001035957.1:p.Glu1550Ala