Canonical Allele Identifier: CA2255576014

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31260398C= , CM000679.2:g.31260398C=	GRCh38
NC_000017.10:g.29587416C= , CM000679.1:g.29587416C=	GRCh37
NC_000017.9:g.26611542C=	NCBI36
NG_009018.1:g.170422C= , LRG_214:g.170422C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.248C=	ENSP00000492721.2:p.Pro83=
ENST00000696138.1:c.4442C=	ENSP00000512431.1:p.Pro1481=
ENST00000696140.1:n.566C=
ENST00000696141.1:c.451C=
ENST00000687863.1:n.1105C=
ENST00000691014.1:c.4490C=	ENSP00000510595.1:p.Pro1497=
ENST00000691649.1:n.1671C=
ENST00000358273.9:c.4460C= MANE Select	ENSP00000351015.4:p.Pro1487=
ENST00000356175.7:c.4397C=	ENSP00000348498.3:p.Pro1466=
ENST00000358273.8:c.4460C=	ENSP00000351015.4:p.Pro1487=
ENST00000456735.6:c.3395C=	ENSP00000389907.2:p.Pro1132=
ENST00000466819.5:c.976C=
ENST00000479614.1:c.913C=
ENST00000493220.5:n.2933C=
ENST00000579081.5:c.4499C=	ENSP00000462408.1:p.Pro1500=
NM_000267.3:c.4397C= , LRG_214t1:c.4397C=	NP_000258.1:p.Pro1466=
NM_001042492.2:c.4460C= , LRG_214t2:c.4460C=	NP_001035957.1:p.Pro1487=
XM_005257983.1:c.4460C=	XP_005258040.1:p.Pro1487=
XM_005257984.1:c.4397C=	XP_005258041.1:p.Pro1466=
XM_006721922.1:c.4490C=	XP_006721985.1:p.Pro1497=
XM_006721923.2:c.4451C=	XP_006721986.1:p.Pro1484=
XM_006721924.1:c.4490C=	XP_006721987.1:p.Pro1497=
XM_006721925.1:c.4427C=	XP_006721988.1:p.Pro1476=
XM_006721926.2:c.4490C=	XP_006721989.1:p.Pro1497=
XM_006721927.1:c.4490C=	XP_006721990.1:p.Pro1497=
XM_006721928.2:c.4490C=	XP_006721991.1:p.Pro1497=
XM_011524852.1:c.4487C=	XP_011523154.1:p.Pro1496=
XM_011524853.1:c.4451C=	XP_011523155.1:p.Pro1484=
XM_011524854.1:c.4451C=	XP_011523156.1:p.Pro1484=
XM_011524855.1:c.4451C=	XP_011523157.1:p.Pro1484=
XM_011524856.1:c.4451C=	XP_011523158.1:p.Pro1484=
XM_011524857.1:c.4490C=	XP_011523159.1:p.Pro1497=
NM_001042492.3:c.4460C= MANE Select	NP_001035957.1:p.Pro1487=