Canonical Allele Identifier: CA2255576494

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31260507C= , CM000679.2:g.31260507C=	GRCh38
NC_000017.10:g.29587525C= , CM000679.1:g.29587525C=	GRCh37
NC_000017.9:g.26611651C=	NCBI36
NG_009018.1:g.170531C= , LRG_214:g.170531C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.357C=	ENSP00000492721.2:p.Ser119=
ENST00000696138.1:c.4551C=	ENSP00000512431.1:p.Ser1517=
ENST00000696140.1:n.675C=
ENST00000696141.1:c.560C=
ENST00000687863.1:n.1214C=
ENST00000691014.1:c.4599C=	ENSP00000510595.1:p.Ser1533=
ENST00000691649.1:n.1780C=
ENST00000358273.9:c.4569C= MANE Select	ENSP00000351015.4:p.Ser1523=
ENST00000356175.7:c.4506C=	ENSP00000348498.3:p.Ser1502=
ENST00000358273.8:c.4569C=	ENSP00000351015.4:p.Ser1523=
ENST00000456735.6:c.3504C=	ENSP00000389907.2:p.Ser1168=
ENST00000466819.5:c.1085C=
ENST00000479614.1:c.1022C=
ENST00000493220.5:n.3042C=
ENST00000579081.5:c.4608C=	ENSP00000462408.1:p.Ser1536=
NM_000267.3:c.4506C= , LRG_214t1:c.4506C=	NP_000258.1:p.Ser1502=
NM_001042492.2:c.4569C= , LRG_214t2:c.4569C=	NP_001035957.1:p.Ser1523=
XM_005257983.1:c.4569C=	XP_005258040.1:p.Ser1523=
XM_005257984.1:c.4506C=	XP_005258041.1:p.Ser1502=
XM_006721922.1:c.4599C=	XP_006721985.1:p.Ser1533=
XM_006721923.2:c.4560C=	XP_006721986.1:p.Ser1520=
XM_006721924.1:c.4599C=	XP_006721987.1:p.Ser1533=
XM_006721925.1:c.4536C=	XP_006721988.1:p.Ser1512=
XM_006721926.2:c.4599C=	XP_006721989.1:p.Ser1533=
XM_006721927.1:c.4599C=	XP_006721990.1:p.Ser1533=
XM_006721928.2:c.4599C=	XP_006721991.1:p.Ser1533=
XM_011524852.1:c.4596C=	XP_011523154.1:p.Ser1532=
XM_011524853.1:c.4560C=	XP_011523155.1:p.Ser1520=
XM_011524854.1:c.4560C=	XP_011523156.1:p.Ser1520=
XM_011524855.1:c.4560C=	XP_011523157.1:p.Ser1520=
XM_011524856.1:c.4560C=	XP_011523158.1:p.Ser1520=
XM_011524857.1:c.4599C=	XP_011523159.1:p.Ser1533=
NM_001042492.3:c.4569C= MANE Select	NP_001035957.1:p.Ser1523=