Canonical Allele Identifier: CA2255619566

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31334856T= , CM000679.2:g.31334856T=	GRCh38
NC_000017.10:g.29661874T= , CM000679.1:g.29661874T=	GRCh37
NC_000017.9:g.26686000T=	NCBI36
NG_009018.1:g.244880T= , LRG_214:g.244880T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.2019T=	ENSP00000492721.2:n.2019T=
ENST00000696138.1:c.5813T=	ENSP00000512431.1:p.Leu1938=
ENST00000684826.1:c.395T=	ENSP00000509994.1:p.Leu132=
ENST00000687027.1:c.-14T=	ENSP00000508715.1:n.-14T=
ENST00000687863.1:n.2476T=
ENST00000691014.1:c.5861T=	ENSP00000510595.1:p.Leu1954=
ENST00000693617.1:c.395T=	ENSP00000510031.1:p.Leu132=
ENST00000358273.9:c.5831T= MANE Select	ENSP00000351015.4:p.Leu1944=
ENST00000356175.7:c.5768T=	ENSP00000348498.3:p.Leu1923=
ENST00000358273.8:c.5831T=	ENSP00000351015.4:p.Leu1944=
ENST00000456735.6:c.4766T=	ENSP00000389907.2:p.Leu1589=
ENST00000479536.2:c.256T=
ENST00000579081.5:c.5967T=	ENSP00000462408.1:n.5967T=
ENST00000581113.6:n.1148T=
NM_000267.3:c.5768T= , LRG_214t1:c.5768T=	NP_000258.1:p.Leu1923=
NM_001042492.2:c.5831T= , LRG_214t2:c.5831T=	NP_001035957.1:p.Leu1944=
XM_005257983.1:c.5831T=	XP_005258040.1:p.Leu1944=
XM_005257984.1:c.5768T=	XP_005258041.1:p.Leu1923=
XM_006721922.1:c.5861T=	XP_006721985.1:p.Leu1954=
XM_006721923.2:c.5822T=	XP_006721986.1:p.Leu1941=
XM_006721924.1:c.5861T=	XP_006721987.1:p.Leu1954=
XM_006721925.1:c.5798T=	XP_006721988.1:p.Leu1933=
XM_006721926.2:c.5861T=	XP_006721989.1:p.Leu1954=
XM_006721927.1:c.5861T=	XP_006721990.1:p.Leu1954=
XM_011524852.1:c.5858T=	XP_011523154.1:p.Leu1953=
XM_011524853.1:c.5822T=	XP_011523155.1:p.Leu1941=
XM_011524854.1:c.5822T=	XP_011523156.1:p.Leu1941=
XM_011524855.1:c.5822T=	XP_011523157.1:p.Leu1941=
XM_011524856.1:c.5822T=	XP_011523158.1:p.Leu1941=
XM_011524857.1:c.5861T=	XP_011523159.1:p.Leu1954=
NM_001042492.3:c.5831T= MANE Select	NP_001035957.1:p.Leu1944=