Canonical Allele Identifier: CA2255609956

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31352309C= , CM000679.2:g.31352309C=	GRCh38
NC_000017.10:g.29679327C= , CM000679.1:g.29679327C=	GRCh37
NC_000017.9:g.26703453C=	NCBI36
NG_009018.1:g.262333C= , LRG_214:g.262333C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.7492C=	ENSP00000512431.1:p.Leu2498=
ENST00000684826.1:c.2074C=	ENSP00000509994.1:p.Leu692=
ENST00000687027.1:c.1666C=	ENSP00000508715.1:p.Leu556=
ENST00000687863.1:n.4155C=
ENST00000689464.1:c.560C=
ENST00000691014.1:c.7540C=	ENSP00000510595.1:p.Leu2514=
ENST00000693617.1:c.2074C=	ENSP00000510031.1:p.Leu692=
ENST00000358273.9:c.7510C= MANE Select	ENSP00000351015.4:p.Leu2504=
ENST00000356175.7:c.7447C=	ENSP00000348498.3:p.Leu2483=
ENST00000358273.8:c.7510C=	ENSP00000351015.4:p.Leu2504=
ENST00000456735.6:c.6445C=	ENSP00000389907.2:p.Leu2149=
ENST00000471572.6:c.893C=
ENST00000579081.5:c.7646C=	ENSP00000462408.1:n.7646C=
ENST00000581790.5:c.600+1991C=
NM_000267.3:c.7447C= , LRG_214t1:c.7447C=	NP_000258.1:p.Leu2483=
NM_001042492.2:c.7510C= , LRG_214t2:c.7510C=	NP_001035957.1:p.Leu2504=
XM_005257983.1:c.7510C=	XP_005258040.1:p.Leu2504=
XM_005257984.1:c.7447C=	XP_005258041.1:p.Leu2483=
XM_006721922.1:c.7540C=	XP_006721985.1:p.Leu2514=
XM_006721923.2:c.7501C=	XP_006721986.1:p.Leu2501=
XM_006721924.1:c.7540C=	XP_006721987.1:p.Leu2514=
XM_006721925.1:c.7477C=	XP_006721988.1:p.Leu2493=
XM_006721926.2:c.7540C=	XP_006721989.1:p.Leu2514=
XM_006721927.1:c.7540C=	XP_006721990.1:p.Leu2514=
XM_011524852.1:c.7537C=	XP_011523154.1:p.Leu2513=
XM_011524853.1:c.7501C=	XP_011523155.1:p.Leu2501=
XM_011524854.1:c.7501C=	XP_011523156.1:p.Leu2501=
XM_011524855.1:c.7501C=	XP_011523157.1:p.Leu2501=
XM_011524856.1:c.7501C=	XP_011523158.1:p.Leu2501=
XM_011524857.1:c.7540C=	XP_011523159.1:p.Leu2514=
NM_001042492.3:c.7510C= MANE Select	NP_001035957.1:p.Leu2504=