Canonical Allele Identifier: CA2255576038

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31260403A= , CM000679.2:g.31260403A=	GRCh38
NC_000017.10:g.29587421A= , CM000679.1:g.29587421A=	GRCh37
NC_000017.9:g.26611547A=	NCBI36
NG_009018.1:g.170427A= , LRG_214:g.170427A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.253A=	ENSP00000492721.2:p.Ser85=
ENST00000696138.1:c.4447A=	ENSP00000512431.1:p.Ser1483=
ENST00000696140.1:n.571A=
ENST00000696141.1:c.456A=
ENST00000687863.1:n.1110A=
ENST00000691014.1:c.4495A=	ENSP00000510595.1:p.Ser1499=
ENST00000691649.1:n.1676A=
ENST00000358273.9:c.4465A= MANE Select	ENSP00000351015.4:p.Ser1489=
ENST00000356175.7:c.4402A=	ENSP00000348498.3:p.Ser1468=
ENST00000358273.8:c.4465A=	ENSP00000351015.4:p.Ser1489=
ENST00000456735.6:c.3400A=	ENSP00000389907.2:p.Ser1134=
ENST00000466819.5:c.981A=
ENST00000479614.1:c.918A=
ENST00000493220.5:n.2938A=
ENST00000579081.5:c.4504A=	ENSP00000462408.1:p.Ser1502=
NM_000267.3:c.4402A= , LRG_214t1:c.4402A=	NP_000258.1:p.Ser1468=
NM_001042492.2:c.4465A= , LRG_214t2:c.4465A=	NP_001035957.1:p.Ser1489=
XM_005257983.1:c.4465A=	XP_005258040.1:p.Ser1489=
XM_005257984.1:c.4402A=	XP_005258041.1:p.Ser1468=
XM_006721922.1:c.4495A=	XP_006721985.1:p.Ser1499=
XM_006721923.2:c.4456A=	XP_006721986.1:p.Ser1486=
XM_006721924.1:c.4495A=	XP_006721987.1:p.Ser1499=
XM_006721925.1:c.4432A=	XP_006721988.1:p.Ser1478=
XM_006721926.2:c.4495A=	XP_006721989.1:p.Ser1499=
XM_006721927.1:c.4495A=	XP_006721990.1:p.Ser1499=
XM_006721928.2:c.4495A=	XP_006721991.1:p.Ser1499=
XM_011524852.1:c.4492A=	XP_011523154.1:p.Ser1498=
XM_011524853.1:c.4456A=	XP_011523155.1:p.Ser1486=
XM_011524854.1:c.4456A=	XP_011523156.1:p.Ser1486=
XM_011524855.1:c.4456A=	XP_011523157.1:p.Ser1486=
XM_011524856.1:c.4456A=	XP_011523158.1:p.Ser1486=
XM_011524857.1:c.4495A=	XP_011523159.1:p.Ser1499=
NM_001042492.3:c.4465A= MANE Select	NP_001035957.1:p.Ser1489=