Canonical Allele Identifier: CA2255577446

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261815G= , CM000679.2:g.31261815G=	GRCh38
NC_000017.10:g.29588833G= , CM000679.1:g.29588833G=	GRCh37
NC_000017.9:g.26612959G=	NCBI36
NG_009018.1:g.171839G= , LRG_214:g.171839G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.484G=	ENSP00000492721.2:p.Ala162=
ENST00000696138.1:c.4664G=	ENSP00000512431.1:p.Ser1555=
ENST00000696140.1:n.788G=
ENST00000696141.1:c.673G=
ENST00000687863.1:n.1327G=
ENST00000691014.1:c.4712G=	ENSP00000510595.1:p.Ser1571=
ENST00000358273.9:c.4682G= MANE Select	ENSP00000351015.4:p.Ser1561=
ENST00000356175.7:c.4619G=	ENSP00000348498.3:p.Ser1540=
ENST00000358273.8:c.4682G=	ENSP00000351015.4:p.Ser1561=
ENST00000456735.6:c.3617G=	ENSP00000389907.2:p.Ser1206=
ENST00000493220.5:n.3155G=
ENST00000579081.5:c.4721G=	ENSP00000462408.1:p.Ser1574=
NM_000267.3:c.4619G= , LRG_214t1:c.4619G=	NP_000258.1:p.Ser1540=
NM_001042492.2:c.4682G= , LRG_214t2:c.4682G=	NP_001035957.1:p.Ser1561=
XM_005257983.1:c.4682G=	XP_005258040.1:p.Ser1561=
XM_005257984.1:c.4619G=	XP_005258041.1:p.Ser1540=
XM_006721922.1:c.4712G=	XP_006721985.1:p.Ser1571=
XM_006721923.2:c.4673G=	XP_006721986.1:p.Ser1558=
XM_006721924.1:c.4712G=	XP_006721987.1:p.Ser1571=
XM_006721925.1:c.4649G=	XP_006721988.1:p.Ser1550=
XM_006721926.2:c.4712G=	XP_006721989.1:p.Ser1571=
XM_006721927.1:c.4712G=	XP_006721990.1:p.Ser1571=
XM_006721928.2:c.4712G=	XP_006721991.1:p.Ser1571=
XM_011524852.1:c.4709G=	XP_011523154.1:p.Ser1570=
XM_011524853.1:c.4673G=	XP_011523155.1:p.Ser1558=
XM_011524854.1:c.4673G=	XP_011523156.1:p.Ser1558=
XM_011524855.1:c.4673G=	XP_011523157.1:p.Ser1558=
XM_011524856.1:c.4673G=	XP_011523158.1:p.Ser1558=
XM_011524857.1:c.4712G=	XP_011523159.1:p.Ser1571=
NM_001042492.3:c.4682G= MANE Select	NP_001035957.1:p.Ser1561=