Canonical Allele Identifier: CA2255619642

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31334983A= , CM000679.2:g.31334983A=	GRCh38
NC_000017.10:g.29662001A= , CM000679.1:g.29662001A=	GRCh37
NC_000017.9:g.26686127A=	NCBI36
NG_009018.1:g.245007A= , LRG_214:g.245007A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.2146A=	ENSP00000492721.2:n.2146A=
ENST00000696138.1:c.5940A=	ENSP00000512431.1:p.Lys1980=
ENST00000684826.1:c.522A=	ENSP00000509994.1:p.Lys174=
ENST00000687027.1:c.114A=	ENSP00000508715.1:p.Lys38=
ENST00000687863.1:n.2603A=
ENST00000691014.1:c.5988A=	ENSP00000510595.1:p.Lys1996=
ENST00000693617.1:c.522A=	ENSP00000510031.1:p.Lys174=
ENST00000358273.9:c.5958A= MANE Select	ENSP00000351015.4:p.Lys1986=
ENST00000356175.7:c.5895A=	ENSP00000348498.3:p.Lys1965=
ENST00000358273.8:c.5958A=	ENSP00000351015.4:p.Lys1986=
ENST00000456735.6:c.4893A=	ENSP00000389907.2:p.Lys1631=
ENST00000479536.2:c.383A=
ENST00000579081.5:c.6094A=	ENSP00000462408.1:n.6094A=
ENST00000581113.6:n.1275A=
NM_000267.3:c.5895A= , LRG_214t1:c.5895A=	NP_000258.1:p.Lys1965=
NM_001042492.2:c.5958A= , LRG_214t2:c.5958A=	NP_001035957.1:p.Lys1986=
XM_005257983.1:c.5958A=	XP_005258040.1:p.Lys1986=
XM_005257984.1:c.5895A=	XP_005258041.1:p.Lys1965=
XM_006721922.1:c.5988A=	XP_006721985.1:p.Lys1996=
XM_006721923.2:c.5949A=	XP_006721986.1:p.Lys1983=
XM_006721924.1:c.5988A=	XP_006721987.1:p.Lys1996=
XM_006721925.1:c.5925A=	XP_006721988.1:p.Lys1975=
XM_006721926.2:c.5988A=	XP_006721989.1:p.Lys1996=
XM_006721927.1:c.5988A=	XP_006721990.1:p.Lys1996=
XM_011524852.1:c.5985A=	XP_011523154.1:p.Lys1995=
XM_011524853.1:c.5949A=	XP_011523155.1:p.Lys1983=
XM_011524854.1:c.5949A=	XP_011523156.1:p.Lys1983=
XM_011524855.1:c.5949A=	XP_011523157.1:p.Lys1983=
XM_011524856.1:c.5949A=	XP_011523158.1:p.Lys1983=
XM_011524857.1:c.5988A=	XP_011523159.1:p.Lys1996=
NM_001042492.3:c.5958A= MANE Select	NP_001035957.1:p.Lys1986=