Canonical Allele Identifier: CA2255577385

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261711G= , CM000679.2:g.31261711G=	GRCh38
NC_000017.10:g.29588729G= , CM000679.1:g.29588729G=	GRCh37
NC_000017.9:g.26612855G=	NCBI36
NG_009018.1:g.171735G= , LRG_214:g.171735G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.380G=	ENSP00000492721.2:p.Gly127=
ENST00000696138.1:c.4560G=	ENSP00000512431.1:p.Arg1520=
ENST00000696140.1:n.684G=
ENST00000696141.1:c.569G=
ENST00000687863.1:n.1223G=
ENST00000691014.1:c.4608G=	ENSP00000510595.1:p.Arg1536=
ENST00000358273.9:c.4578G= MANE Select	ENSP00000351015.4:p.Arg1526=
ENST00000356175.7:c.4515G=	ENSP00000348498.3:p.Arg1505=
ENST00000358273.8:c.4578G=	ENSP00000351015.4:p.Arg1526=
ENST00000456735.6:c.3513G=	ENSP00000389907.2:p.Arg1171=
ENST00000466819.5:c.1094G=
ENST00000479614.1:c.1031G=
ENST00000493220.5:n.3051G=
ENST00000579081.5:c.4617G=	ENSP00000462408.1:p.Arg1539=
NM_000267.3:c.4515G= , LRG_214t1:c.4515G=	NP_000258.1:p.Arg1505=
NM_001042492.2:c.4578G= , LRG_214t2:c.4578G=	NP_001035957.1:p.Arg1526=
XM_005257983.1:c.4578G=	XP_005258040.1:p.Arg1526=
XM_005257984.1:c.4515G=	XP_005258041.1:p.Arg1505=
XM_006721922.1:c.4608G=	XP_006721985.1:p.Arg1536=
XM_006721923.2:c.4569G=	XP_006721986.1:p.Arg1523=
XM_006721924.1:c.4608G=	XP_006721987.1:p.Arg1536=
XM_006721925.1:c.4545G=	XP_006721988.1:p.Arg1515=
XM_006721926.2:c.4608G=	XP_006721989.1:p.Arg1536=
XM_006721927.1:c.4608G=	XP_006721990.1:p.Arg1536=
XM_006721928.2:c.4608G=	XP_006721991.1:p.Arg1536=
XM_011524852.1:c.4605G=	XP_011523154.1:p.Arg1535=
XM_011524853.1:c.4569G=	XP_011523155.1:p.Arg1523=
XM_011524854.1:c.4569G=	XP_011523156.1:p.Arg1523=
XM_011524855.1:c.4569G=	XP_011523157.1:p.Arg1523=
XM_011524856.1:c.4569G=	XP_011523158.1:p.Arg1523=
XM_011524857.1:c.4608G=	XP_011523159.1:p.Arg1536=
NM_001042492.3:c.4578G= MANE Select	NP_001035957.1:p.Arg1526=