Canonical Allele Identifier: CA2255570856

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233204T= , CM000679.2:g.31233204T=	GRCh38
NC_000017.10:g.29560222T= , CM000679.1:g.29560222T=	GRCh37
NC_000017.9:g.26584348T=	NCBI36
NG_009018.1:g.143228T= , LRG_214:g.143228T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3744T=	ENSP00000512431.1:p.Cys1248=
ENST00000696139.1:c.1044T=	ENSP00000512432.1:p.Cys348=
ENST00000691014.1:c.3729T=	ENSP00000510595.1:p.Cys1243=
ENST00000693210.1:n.425T=
ENST00000358273.9:c.3699T= MANE Select	ENSP00000351015.4:p.Cys1233=
ENST00000356175.7:c.3699T=	ENSP00000348498.3:p.Cys1233=
ENST00000358273.8:c.3699T=	ENSP00000351015.4:p.Cys1233=
ENST00000456735.6:c.2697T=	ENSP00000389907.2:p.Cys899=
ENST00000466819.5:c.175T=
ENST00000479614.1:c.175T=
ENST00000493220.5:n.2235T=
ENST00000495910.6:c.3474T=
ENST00000579081.5:c.3801T=	ENSP00000462408.1:p.Cys1267=
NM_000267.3:c.3699T= , LRG_214t1:c.3699T=	NP_000258.1:p.Cys1233=
NM_001042492.2:c.3699T= , LRG_214t2:c.3699T=	NP_001035957.1:p.Cys1233=
XM_005257983.1:c.3699T=	XP_005258040.1:p.Cys1233=
XM_005257984.1:c.3699T=	XP_005258041.1:p.Cys1233=
XM_006721922.1:c.3729T=	XP_006721985.1:p.Cys1243=
XM_006721923.2:c.3690T=	XP_006721986.1:p.Cys1230=
XM_006721924.1:c.3729T=	XP_006721987.1:p.Cys1243=
XM_006721925.1:c.3729T=	XP_006721988.1:p.Cys1243=
XM_006721926.2:c.3729T=	XP_006721989.1:p.Cys1243=
XM_006721927.1:c.3729T=	XP_006721990.1:p.Cys1243=
XM_006721928.2:c.3729T=	XP_006721991.1:p.Cys1243=
XM_011524852.1:c.3726T=	XP_011523154.1:p.Cys1242=
XM_011524853.1:c.3690T=	XP_011523155.1:p.Cys1230=
XM_011524854.1:c.3690T=	XP_011523156.1:p.Cys1230=
XM_011524855.1:c.3690T=	XP_011523157.1:p.Cys1230=
XM_011524856.1:c.3690T=	XP_011523158.1:p.Cys1230=
XM_011524857.1:c.3729T=	XP_011523159.1:p.Cys1243=
NM_001042492.3:c.3699T= MANE Select	NP_001035957.1:p.Cys1233=