Canonical Allele Identifier: CA2255619610

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31334933A= , CM000679.2:g.31334933A=	GRCh38
NC_000017.10:g.29661951A= , CM000679.1:g.29661951A=	GRCh37
NC_000017.9:g.26686077A=	NCBI36
NG_009018.1:g.244957A= , LRG_214:g.244957A=

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.5908A= MANE Select	NP_001035957.1:p.Arg1970=
ENST00000358273.9:c.5908A= MANE Select	ENSP00000351015.4:p.Arg1970=
NM_000267.3:c.5845A= , LRG_214t1:c.5845A=	NP_000258.1:p.Arg1949=
NM_001042492.2:c.5908A= , LRG_214t2:c.5908A=	NP_001035957.1:p.Arg1970=
ENST00000356175.7:c.5845A=	ENSP00000348498.3:p.Arg1949=
ENST00000358273.8:c.5908A=	ENSP00000351015.4:p.Arg1970=
ENST00000456735.6:c.4843A=	ENSP00000389907.2:p.Arg1615=
ENST00000479536.2:c.333A=
ENST00000579081.5:c.6044A=	ENSP00000462408.1:n.6044A=
ENST00000581113.6:n.1225A=
ENST00000581113.7:c.2096A=	ENSP00000492721.2:n.2096A=
ENST00000684826.1:c.472A=	ENSP00000509994.1:p.Arg158=
ENST00000687027.1:c.64A=	ENSP00000508715.1:p.Arg22=
ENST00000687863.1:n.2553A=
ENST00000691014.1:c.5938A=	ENSP00000510595.1:p.Arg1980=
ENST00000693617.1:c.472A=	ENSP00000510031.1:p.Arg158=
ENST00000696138.1:c.5890A=	ENSP00000512431.1:p.Arg1964=
XM_005257983.1:c.5908A=	XP_005258040.1:p.Arg1970=
XM_005257984.1:c.5845A=	XP_005258041.1:p.Arg1949=
XM_006721922.1:c.5938A=	XP_006721985.1:p.Arg1980=
XM_006721923.2:c.5899A=	XP_006721986.1:p.Arg1967=
XM_006721924.1:c.5938A=	XP_006721987.1:p.Arg1980=
XM_006721925.1:c.5875A=	XP_006721988.1:p.Arg1959=
XM_006721926.2:c.5938A=	XP_006721989.1:p.Arg1980=
XM_006721927.1:c.5938A=	XP_006721990.1:p.Arg1980=
XM_011524852.1:c.5935A=	XP_011523154.1:p.Arg1979=
XM_011524853.1:c.5899A=	XP_011523155.1:p.Arg1967=
XM_011524854.1:c.5899A=	XP_011523156.1:p.Arg1967=
XM_011524855.1:c.5899A=	XP_011523157.1:p.Arg1967=
XM_011524856.1:c.5899A=	XP_011523158.1:p.Arg1967=
XM_011524857.1:c.5938A=	XP_011523159.1:p.Arg1980=