Canonical Allele Identifier: CA2255570698

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233159A= , CM000679.2:g.31233159A=	GRCh38
NC_000017.10:g.29560177A= , CM000679.1:g.29560177A=	GRCh37
NC_000017.9:g.26584303A=	NCBI36
NG_009018.1:g.143183A= , LRG_214:g.143183A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3699A=	ENSP00000512431.1:p.Gln1233=
ENST00000696139.1:c.999A=	ENSP00000512432.1:p.Gln333=
ENST00000691014.1:c.3684A=	ENSP00000510595.1:p.Gln1228=
ENST00000693210.1:n.380A=
ENST00000358273.9:c.3654A= MANE Select	ENSP00000351015.4:p.Gln1218=
ENST00000356175.7:c.3654A=	ENSP00000348498.3:p.Gln1218=
ENST00000358273.8:c.3654A=	ENSP00000351015.4:p.Gln1218=
ENST00000456735.6:c.2652A=	ENSP00000389907.2:p.Gln884=
ENST00000466819.5:c.130A=
ENST00000479614.1:c.130A=
ENST00000493220.5:n.2190A=
ENST00000495910.6:c.3429A=
ENST00000579081.5:c.3756A=	ENSP00000462408.1:p.Gln1252=
NM_000267.3:c.3654A= , LRG_214t1:c.3654A=	NP_000258.1:p.Gln1218=
NM_001042492.2:c.3654A= , LRG_214t2:c.3654A=	NP_001035957.1:p.Gln1218=
XM_005257983.1:c.3654A=	XP_005258040.1:p.Gln1218=
XM_005257984.1:c.3654A=	XP_005258041.1:p.Gln1218=
XM_006721922.1:c.3684A=	XP_006721985.1:p.Gln1228=
XM_006721923.2:c.3645A=	XP_006721986.1:p.Gln1215=
XM_006721924.1:c.3684A=	XP_006721987.1:p.Gln1228=
XM_006721925.1:c.3684A=	XP_006721988.1:p.Gln1228=
XM_006721926.2:c.3684A=	XP_006721989.1:p.Gln1228=
XM_006721927.1:c.3684A=	XP_006721990.1:p.Gln1228=
XM_006721928.2:c.3684A=	XP_006721991.1:p.Gln1228=
XM_011524852.1:c.3681A=	XP_011523154.1:p.Gln1227=
XM_011524853.1:c.3645A=	XP_011523155.1:p.Gln1215=
XM_011524854.1:c.3645A=	XP_011523156.1:p.Gln1215=
XM_011524855.1:c.3645A=	XP_011523157.1:p.Gln1215=
XM_011524856.1:c.3645A=	XP_011523158.1:p.Gln1215=
XM_011524857.1:c.3684A=	XP_011523159.1:p.Gln1228=
NM_001042492.3:c.3654A= MANE Select	NP_001035957.1:p.Gln1218=