Canonical Allele Identifier: CA2255603121

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338723A= , CM000679.2:g.31338723A=	GRCh38
NC_000017.10:g.29665741A= , CM000679.1:g.29665741A=	GRCh37
NC_000017.9:g.26689867A=	NCBI36
NG_009018.1:g.248747A= , LRG_214:g.248747A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6821A=	ENSP00000512431.1:p.Lys2274=
ENST00000684826.1:c.1403A=	ENSP00000509994.1:p.Lys468=
ENST00000684998.1:n.2661A=
ENST00000687027.1:c.995A=	ENSP00000508715.1:p.Lys332=
ENST00000687863.1:n.3484A=
ENST00000691014.1:c.6869A=	ENSP00000510595.1:p.Lys2290=
ENST00000693617.1:c.1403A=	ENSP00000510031.1:p.Lys468=
ENST00000358273.9:c.6839A= MANE Select	ENSP00000351015.4:p.Lys2280=
ENST00000356175.7:c.6776A=	ENSP00000348498.3:p.Lys2259=
ENST00000358273.8:c.6839A=	ENSP00000351015.4:p.Lys2280=
ENST00000456735.6:c.5774A=	ENSP00000389907.2:p.Lys1925=
ENST00000471572.6:c.222A=
ENST00000579081.5:c.6975A=	ENSP00000462408.1:n.6975A=
ENST00000581790.5:c.64+843A=
ENST00000584328.1:n.253A=
NM_000267.3:c.6776A= , LRG_214t1:c.6776A=	NP_000258.1:p.Lys2259=
NM_001042492.2:c.6839A= , LRG_214t2:c.6839A=	NP_001035957.1:p.Lys2280=
XM_005257983.1:c.6839A=	XP_005258040.1:p.Lys2280=
XM_005257984.1:c.6776A=	XP_005258041.1:p.Lys2259=
XM_006721922.1:c.6869A=	XP_006721985.1:p.Lys2290=
XM_006721923.2:c.6830A=	XP_006721986.1:p.Lys2277=
XM_006721924.1:c.6869A=	XP_006721987.1:p.Lys2290=
XM_006721925.1:c.6806A=	XP_006721988.1:p.Lys2269=
XM_006721926.2:c.6869A=	XP_006721989.1:p.Lys2290=
XM_006721927.1:c.6869A=	XP_006721990.1:p.Lys2290=
XM_011524852.1:c.6866A=	XP_011523154.1:p.Lys2289=
XM_011524853.1:c.6830A=	XP_011523155.1:p.Lys2277=
XM_011524854.1:c.6830A=	XP_011523156.1:p.Lys2277=
XM_011524855.1:c.6830A=	XP_011523157.1:p.Lys2277=
XM_011524856.1:c.6830A=	XP_011523158.1:p.Lys2277=
XM_011524857.1:c.6869A=	XP_011523159.1:p.Lys2290=
NM_001042492.3:c.6839A= MANE Select	NP_001035957.1:p.Lys2280=