Canonical Allele Identifier: CA2255566642

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229954A= , CM000679.2:g.31229954A=	GRCh38
NC_000017.10:g.29556972A= , CM000679.1:g.29556972A=	GRCh37
NC_000017.9:g.26581098A=	NCBI36
NG_009018.1:g.139978A= , LRG_214:g.139978A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3015A=	ENSP00000512431.1:p.Thr1005=
ENST00000696139.1:c.315A=	ENSP00000512432.1:p.Thr105=
ENST00000691014.1:c.3000A=	ENSP00000510595.1:p.Thr1000=
ENST00000358273.9:c.2970A= MANE Select	ENSP00000351015.4:p.Thr990=
ENST00000356175.7:c.2970A=	ENSP00000348498.3:p.Thr990=
ENST00000358273.8:c.2970A=	ENSP00000351015.4:p.Thr990=
ENST00000456735.6:c.1968A=	ENSP00000389907.2:p.Thr656=
ENST00000493220.5:n.1506A=
ENST00000495910.6:c.2745A=
ENST00000579081.5:c.3072A=	ENSP00000462408.1:p.Thr1024=
NM_000267.3:c.2970A= , LRG_214t1:c.2970A=	NP_000258.1:p.Thr990=
NM_001042492.2:c.2970A= , LRG_214t2:c.2970A=	NP_001035957.1:p.Thr990=
XM_005257983.1:c.2970A=	XP_005258040.1:p.Thr990=
XM_005257984.1:c.2970A=	XP_005258041.1:p.Thr990=
XM_006721922.1:c.3000A=	XP_006721985.1:p.Thr1000=
XM_006721923.2:c.2961A=	XP_006721986.1:p.Thr987=
XM_006721924.1:c.3000A=	XP_006721987.1:p.Thr1000=
XM_006721925.1:c.3000A=	XP_006721988.1:p.Thr1000=
XM_006721926.2:c.3000A=	XP_006721989.1:p.Thr1000=
XM_006721927.1:c.3000A=	XP_006721990.1:p.Thr1000=
XM_006721928.2:c.3000A=	XP_006721991.1:p.Thr1000=
XM_011524852.1:c.2997A=	XP_011523154.1:p.Thr999=
XM_011524853.1:c.2961A=	XP_011523155.1:p.Thr987=
XM_011524854.1:c.2961A=	XP_011523156.1:p.Thr987=
XM_011524855.1:c.2961A=	XP_011523157.1:p.Thr987=
XM_011524856.1:c.2961A=	XP_011523158.1:p.Thr987=
XM_011524857.1:c.3000A=	XP_011523159.1:p.Thr1000=
NM_001042492.3:c.2970A= MANE Select	NP_001035957.1:p.Thr990=