Canonical Allele Identifier: CA2255605058

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343018G= , CM000679.2:g.31343018G=	GRCh38
NC_000017.10:g.29670036G= , CM000679.1:g.29670036G=	GRCh37
NC_000017.9:g.26694162G=	NCBI36
NG_009018.1:g.253042G= , LRG_214:g.253042G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7054G=	ENSP00000512431.1:p.Glu2352=
ENST00000684826.1:c.1636G=	ENSP00000509994.1:p.Glu546=
ENST00000687027.1:c.1228G=	ENSP00000508715.1:p.Glu410=
ENST00000687863.1:n.3717G=
ENST00000689464.1:c.11G=
ENST00000691014.1:c.7102G=	ENSP00000510595.1:p.Glu2368=
ENST00000693617.1:c.1636G=	ENSP00000510031.1:p.Glu546=
ENST00000358273.9:c.7072G= MANE Select	ENSP00000351015.4:p.Glu2358=
ENST00000356175.7:c.7009G=	ENSP00000348498.3:p.Glu2337=
ENST00000358273.8:c.7072G=	ENSP00000351015.4:p.Glu2358=
ENST00000456735.6:c.6007G=	ENSP00000389907.2:p.Glu2003=
ENST00000471572.6:c.455G=
ENST00000579081.5:c.7208G=	ENSP00000462408.1:n.7208G=
ENST00000581790.5:c.215G=
ENST00000582892.1:n.314G=
ENST00000584328.1:n.486G=
NM_000267.3:c.7009G= , LRG_214t1:c.7009G=	NP_000258.1:p.Glu2337=
NM_001042492.2:c.7072G= , LRG_214t2:c.7072G=	NP_001035957.1:p.Glu2358=
XM_005257983.1:c.7072G=	XP_005258040.1:p.Glu2358=
XM_005257984.1:c.7009G=	XP_005258041.1:p.Glu2337=
XM_006721922.1:c.7102G=	XP_006721985.1:p.Glu2368=
XM_006721923.2:c.7063G=	XP_006721986.1:p.Glu2355=
XM_006721924.1:c.7102G=	XP_006721987.1:p.Glu2368=
XM_006721925.1:c.7039G=	XP_006721988.1:p.Glu2347=
XM_006721926.2:c.7102G=	XP_006721989.1:p.Glu2368=
XM_006721927.1:c.7102G=	XP_006721990.1:p.Glu2368=
XM_011524852.1:c.7099G=	XP_011523154.1:p.Glu2367=
XM_011524853.1:c.7063G=	XP_011523155.1:p.Glu2355=
XM_011524854.1:c.7063G=	XP_011523156.1:p.Glu2355=
XM_011524855.1:c.7063G=	XP_011523157.1:p.Glu2355=
XM_011524856.1:c.7063G=	XP_011523158.1:p.Glu2355=
XM_011524857.1:c.7102G=	XP_011523159.1:p.Glu2368=
NM_001042492.3:c.7072G= MANE Select	NP_001035957.1:p.Glu2358=