Canonical Allele Identifier: CA2255577398

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261734G= , CM000679.2:g.31261734G=	GRCh38
NC_000017.10:g.29588752G= , CM000679.1:g.29588752G=	GRCh37
NC_000017.9:g.26612878G=	NCBI36
NG_009018.1:g.171758G= , LRG_214:g.171758G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.403G=	ENSP00000492721.2:p.Asp135=
ENST00000696138.1:c.4583G=	ENSP00000512431.1:p.Arg1528=
ENST00000696140.1:n.707G=
ENST00000696141.1:c.592G=
ENST00000687863.1:n.1246G=
ENST00000691014.1:c.4631G=	ENSP00000510595.1:p.Arg1544=
ENST00000358273.9:c.4601G= MANE Select	ENSP00000351015.4:p.Arg1534=
ENST00000356175.7:c.4538G=	ENSP00000348498.3:p.Arg1513=
ENST00000358273.8:c.4601G=	ENSP00000351015.4:p.Arg1534=
ENST00000456735.6:c.3536G=	ENSP00000389907.2:p.Arg1179=
ENST00000466819.5:c.1117G=
ENST00000479614.1:c.1054G=
ENST00000493220.5:n.3074G=
ENST00000579081.5:c.4640G=	ENSP00000462408.1:p.Arg1547=
NM_000267.3:c.4538G= , LRG_214t1:c.4538G=	NP_000258.1:p.Arg1513=
NM_001042492.2:c.4601G= , LRG_214t2:c.4601G=	NP_001035957.1:p.Arg1534=
XM_005257983.1:c.4601G=	XP_005258040.1:p.Arg1534=
XM_005257984.1:c.4538G=	XP_005258041.1:p.Arg1513=
XM_006721922.1:c.4631G=	XP_006721985.1:p.Arg1544=
XM_006721923.2:c.4592G=	XP_006721986.1:p.Arg1531=
XM_006721924.1:c.4631G=	XP_006721987.1:p.Arg1544=
XM_006721925.1:c.4568G=	XP_006721988.1:p.Arg1523=
XM_006721926.2:c.4631G=	XP_006721989.1:p.Arg1544=
XM_006721927.1:c.4631G=	XP_006721990.1:p.Arg1544=
XM_006721928.2:c.4631G=	XP_006721991.1:p.Arg1544=
XM_011524852.1:c.4628G=	XP_011523154.1:p.Arg1543=
XM_011524853.1:c.4592G=	XP_011523155.1:p.Arg1531=
XM_011524854.1:c.4592G=	XP_011523156.1:p.Arg1531=
XM_011524855.1:c.4592G=	XP_011523157.1:p.Arg1531=
XM_011524856.1:c.4592G=	XP_011523158.1:p.Arg1531=
XM_011524857.1:c.4631G=	XP_011523159.1:p.Arg1544=
NM_001042492.3:c.4601G= MANE Select	NP_001035957.1:p.Arg1534=