Canonical Allele Identifier: CA2255579004

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265335C= , CM000679.2:g.31265335C=	GRCh38
NC_000017.10:g.29592353C= , CM000679.1:g.29592353C=	GRCh37
NC_000017.9:g.26616479C=	NCBI36
NG_009018.1:g.175359C= , LRG_214:g.175359C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.633C=	ENSP00000492721.2:n.633C=
ENST00000696138.1:c.4813C=	ENSP00000512431.1:p.Arg1605=
ENST00000696140.1:n.937C=
ENST00000696141.1:c.822C=
ENST00000687863.1:n.1476C=
ENST00000691014.1:c.4861C=	ENSP00000510595.1:p.Arg1621=
ENST00000358273.9:c.4831C= MANE Select	ENSP00000351015.4:p.Arg1611=
ENST00000356175.7:c.4768C=	ENSP00000348498.3:p.Arg1590=
ENST00000358273.8:c.4831C=	ENSP00000351015.4:p.Arg1611=
ENST00000456735.6:c.3766C=	ENSP00000389907.2:p.Arg1256=
ENST00000493220.5:n.3304C=
ENST00000579081.5:c.4870C=	ENSP00000462408.1:p.Arg1624=
NM_000267.3:c.4768C= , LRG_214t1:c.4768C=	NP_000258.1:p.Arg1590=
NM_001042492.2:c.4831C= , LRG_214t2:c.4831C=	NP_001035957.1:p.Arg1611=
XM_005257983.1:c.4831C=	XP_005258040.1:p.Arg1611=
XM_005257984.1:c.4768C=	XP_005258041.1:p.Arg1590=
XM_006721922.1:c.4861C=	XP_006721985.1:p.Arg1621=
XM_006721923.2:c.4822C=	XP_006721986.1:p.Arg1608=
XM_006721924.1:c.4861C=	XP_006721987.1:p.Arg1621=
XM_006721925.1:c.4798C=	XP_006721988.1:p.Arg1600=
XM_006721926.2:c.4861C=	XP_006721989.1:p.Arg1621=
XM_006721927.1:c.4861C=	XP_006721990.1:p.Arg1621=
XM_006721928.2:c.4861C=	XP_006721991.1:p.Arg1621=
XM_011524852.1:c.4858C=	XP_011523154.1:p.Arg1620=
XM_011524853.1:c.4822C=	XP_011523155.1:p.Arg1608=
XM_011524854.1:c.4822C=	XP_011523156.1:p.Arg1608=
XM_011524855.1:c.4822C=	XP_011523157.1:p.Arg1608=
XM_011524856.1:c.4822C=	XP_011523158.1:p.Arg1608=
XM_011524857.1:c.4861C=	XP_011523159.1:p.Arg1621=
NM_001042492.3:c.4831C= MANE Select	NP_001035957.1:p.Arg1611=