Canonical Allele Identifier: CA2255578982

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265302A= , CM000679.2:g.31265302A=	GRCh38
NC_000017.10:g.29592320A= , CM000679.1:g.29592320A=	GRCh37
NC_000017.9:g.26616446A=	NCBI36
NG_009018.1:g.175326A= , LRG_214:g.175326A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.600A=	ENSP00000492721.2:n.600A=
ENST00000696138.1:c.4780A=	ENSP00000512431.1:p.Lys1594=
ENST00000696140.1:n.904A=
ENST00000696141.1:c.789A=
ENST00000687863.1:n.1443A=
ENST00000691014.1:c.4828A=	ENSP00000510595.1:p.Lys1610=
ENST00000358273.9:c.4798A= MANE Select	ENSP00000351015.4:p.Lys1600=
ENST00000356175.7:c.4735A=	ENSP00000348498.3:p.Lys1579=
ENST00000358273.8:c.4798A=	ENSP00000351015.4:p.Lys1600=
ENST00000456735.6:c.3733A=	ENSP00000389907.2:p.Lys1245=
ENST00000493220.5:n.3271A=
ENST00000579081.5:c.4837A=	ENSP00000462408.1:p.Lys1613=
NM_000267.3:c.4735A= , LRG_214t1:c.4735A=	NP_000258.1:p.Lys1579=
NM_001042492.2:c.4798A= , LRG_214t2:c.4798A=	NP_001035957.1:p.Lys1600=
XM_005257983.1:c.4798A=	XP_005258040.1:p.Lys1600=
XM_005257984.1:c.4735A=	XP_005258041.1:p.Lys1579=
XM_006721922.1:c.4828A=	XP_006721985.1:p.Lys1610=
XM_006721923.2:c.4789A=	XP_006721986.1:p.Lys1597=
XM_006721924.1:c.4828A=	XP_006721987.1:p.Lys1610=
XM_006721925.1:c.4765A=	XP_006721988.1:p.Lys1589=
XM_006721926.2:c.4828A=	XP_006721989.1:p.Lys1610=
XM_006721927.1:c.4828A=	XP_006721990.1:p.Lys1610=
XM_006721928.2:c.4828A=	XP_006721991.1:p.Lys1610=
XM_011524852.1:c.4825A=	XP_011523154.1:p.Lys1609=
XM_011524853.1:c.4789A=	XP_011523155.1:p.Lys1597=
XM_011524854.1:c.4789A=	XP_011523156.1:p.Lys1597=
XM_011524855.1:c.4789A=	XP_011523157.1:p.Lys1597=
XM_011524856.1:c.4789A=	XP_011523158.1:p.Lys1597=
XM_011524857.1:c.4828A=	XP_011523159.1:p.Lys1610=
NM_001042492.3:c.4798A= MANE Select	NP_001035957.1:p.Lys1600=