Canonical Allele Identifier: CA2255577429

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261790C= , CM000679.2:g.31261790C=	GRCh38
NC_000017.10:g.29588808C= , CM000679.1:g.29588808C=	GRCh37
NC_000017.9:g.26612934C=	NCBI36
NG_009018.1:g.171814C= , LRG_214:g.171814C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.459C=	ENSP00000492721.2:p.Asn153=
ENST00000696138.1:c.4639C=	ENSP00000512431.1:p.Pro1547=
ENST00000696140.1:n.763C=
ENST00000696141.1:c.648C=
ENST00000687863.1:n.1302C=
ENST00000691014.1:c.4687C=	ENSP00000510595.1:p.Pro1563=
ENST00000358273.9:c.4657C= MANE Select	ENSP00000351015.4:p.Pro1553=
ENST00000356175.7:c.4594C=	ENSP00000348498.3:p.Pro1532=
ENST00000358273.8:c.4657C=	ENSP00000351015.4:p.Pro1553=
ENST00000456735.6:c.3592C=	ENSP00000389907.2:p.Pro1198=
ENST00000466819.5:c.1173C=
ENST00000479614.1:c.1110C=
ENST00000493220.5:n.3130C=
ENST00000579081.5:c.4696C=	ENSP00000462408.1:p.Pro1566=
NM_000267.3:c.4594C= , LRG_214t1:c.4594C=	NP_000258.1:p.Pro1532=
NM_001042492.2:c.4657C= , LRG_214t2:c.4657C=	NP_001035957.1:p.Pro1553=
XM_005257983.1:c.4657C=	XP_005258040.1:p.Pro1553=
XM_005257984.1:c.4594C=	XP_005258041.1:p.Pro1532=
XM_006721922.1:c.4687C=	XP_006721985.1:p.Pro1563=
XM_006721923.2:c.4648C=	XP_006721986.1:p.Pro1550=
XM_006721924.1:c.4687C=	XP_006721987.1:p.Pro1563=
XM_006721925.1:c.4624C=	XP_006721988.1:p.Pro1542=
XM_006721926.2:c.4687C=	XP_006721989.1:p.Pro1563=
XM_006721927.1:c.4687C=	XP_006721990.1:p.Pro1563=
XM_006721928.2:c.4687C=	XP_006721991.1:p.Pro1563=
XM_011524852.1:c.4684C=	XP_011523154.1:p.Pro1562=
XM_011524853.1:c.4648C=	XP_011523155.1:p.Pro1550=
XM_011524854.1:c.4648C=	XP_011523156.1:p.Pro1550=
XM_011524855.1:c.4648C=	XP_011523157.1:p.Pro1550=
XM_011524856.1:c.4648C=	XP_011523158.1:p.Pro1550=
XM_011524857.1:c.4687C=	XP_011523159.1:p.Pro1563=
NM_001042492.3:c.4657C= MANE Select	NP_001035957.1:p.Pro1553=