Canonical Allele Identifier: CA2255605137

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343132A= , CM000679.2:g.31343132A=	GRCh38
NC_000017.10:g.29670150A= , CM000679.1:g.29670150A=	GRCh37
NC_000017.9:g.26694276A=	NCBI36
NG_009018.1:g.253156A= , LRG_214:g.253156A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7168A=	ENSP00000512431.1:p.Lys2390=
ENST00000684826.1:c.1750A=	ENSP00000509994.1:p.Lys584=
ENST00000687027.1:c.1342A=	ENSP00000508715.1:p.Lys448=
ENST00000687863.1:n.3831A=
ENST00000689464.1:c.125A=
ENST00000691014.1:c.7216A=	ENSP00000510595.1:p.Lys2406=
ENST00000693617.1:c.1750A=	ENSP00000510031.1:p.Lys584=
ENST00000358273.9:c.7186A= MANE Select	ENSP00000351015.4:p.Lys2396=
ENST00000356175.7:c.7123A=	ENSP00000348498.3:p.Lys2375=
ENST00000358273.8:c.7186A=	ENSP00000351015.4:p.Lys2396=
ENST00000456735.6:c.6121A=	ENSP00000389907.2:p.Lys2041=
ENST00000471572.6:c.569A=
ENST00000579081.5:c.7322A=	ENSP00000462408.1:n.7322A=
ENST00000581790.5:c.329A=
ENST00000582892.1:n.428A=
NM_000267.3:c.7123A= , LRG_214t1:c.7123A=	NP_000258.1:p.Lys2375=
NM_001042492.2:c.7186A= , LRG_214t2:c.7186A=	NP_001035957.1:p.Lys2396=
XM_005257983.1:c.7186A=	XP_005258040.1:p.Lys2396=
XM_005257984.1:c.7123A=	XP_005258041.1:p.Lys2375=
XM_006721922.1:c.7216A=	XP_006721985.1:p.Lys2406=
XM_006721923.2:c.7177A=	XP_006721986.1:p.Lys2393=
XM_006721924.1:c.7216A=	XP_006721987.1:p.Lys2406=
XM_006721925.1:c.7153A=	XP_006721988.1:p.Lys2385=
XM_006721926.2:c.7216A=	XP_006721989.1:p.Lys2406=
XM_006721927.1:c.7216A=	XP_006721990.1:p.Lys2406=
XM_011524852.1:c.7213A=	XP_011523154.1:p.Lys2405=
XM_011524853.1:c.7177A=	XP_011523155.1:p.Lys2393=
XM_011524854.1:c.7177A=	XP_011523156.1:p.Lys2393=
XM_011524855.1:c.7177A=	XP_011523157.1:p.Lys2393=
XM_011524856.1:c.7177A=	XP_011523158.1:p.Lys2393=
XM_011524857.1:c.7216A=	XP_011523159.1:p.Lys2406=
NM_001042492.3:c.7186A= MANE Select	NP_001035957.1:p.Lys2396=