Canonical Allele Identifier: CA2255602820

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338025A= , CM000679.2:g.31338025A=	GRCh38
NC_000017.10:g.29665043A= , CM000679.1:g.29665043A=	GRCh37
NC_000017.9:g.26689169A=	NCBI36
NG_009018.1:g.248049A= , LRG_214:g.248049A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6687A=	ENSP00000512431.1:p.Arg2229=
ENST00000684826.1:c.1269A=	ENSP00000509994.1:p.Arg423=
ENST00000684998.1:n.1963A=
ENST00000687027.1:c.861A=	ENSP00000508715.1:p.Arg287=
ENST00000687863.1:n.3350A=
ENST00000691014.1:c.6735A=	ENSP00000510595.1:p.Arg2245=
ENST00000693617.1:c.1269A=	ENSP00000510031.1:p.Arg423=
ENST00000358273.9:c.6705A= MANE Select	ENSP00000351015.4:p.Arg2235=
ENST00000356175.7:c.6642A=	ENSP00000348498.3:p.Arg2214=
ENST00000358273.8:c.6705A=	ENSP00000351015.4:p.Arg2235=
ENST00000456735.6:c.5640A=	ENSP00000389907.2:p.Arg1880=
ENST00000471572.6:c.88A=
ENST00000579081.5:c.6841A=	ENSP00000462408.1:n.6841A=
ENST00000581790.5:c.64+145A=
ENST00000584328.1:n.119A=
NM_000267.3:c.6642A= , LRG_214t1:c.6642A=	NP_000258.1:p.Arg2214=
NM_001042492.2:c.6705A= , LRG_214t2:c.6705A=	NP_001035957.1:p.Arg2235=
XM_005257983.1:c.6705A=	XP_005258040.1:p.Arg2235=
XM_005257984.1:c.6642A=	XP_005258041.1:p.Arg2214=
XM_006721922.1:c.6735A=	XP_006721985.1:p.Arg2245=
XM_006721923.2:c.6696A=	XP_006721986.1:p.Arg2232=
XM_006721924.1:c.6735A=	XP_006721987.1:p.Arg2245=
XM_006721925.1:c.6672A=	XP_006721988.1:p.Arg2224=
XM_006721926.2:c.6735A=	XP_006721989.1:p.Arg2245=
XM_006721927.1:c.6735A=	XP_006721990.1:p.Arg2245=
XM_011524852.1:c.6732A=	XP_011523154.1:p.Arg2244=
XM_011524853.1:c.6696A=	XP_011523155.1:p.Arg2232=
XM_011524854.1:c.6696A=	XP_011523156.1:p.Arg2232=
XM_011524855.1:c.6696A=	XP_011523157.1:p.Arg2232=
XM_011524856.1:c.6696A=	XP_011523158.1:p.Arg2232=
XM_011524857.1:c.6735A=	XP_011523159.1:p.Arg2245=
NM_001042492.3:c.6705A= MANE Select	NP_001035957.1:p.Arg2235=