Canonical Allele Identifier: CA2255619560

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31334848G= , CM000679.2:g.31334848G=	GRCh38
NC_000017.10:g.29661866G= , CM000679.1:g.29661866G=	GRCh37
NC_000017.9:g.26685992G=	NCBI36
NG_009018.1:g.244872G= , LRG_214:g.244872G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.2011G=	ENSP00000492721.2:n.2011G=
ENST00000696138.1:c.5805G=	ENSP00000512431.1:p.Leu1935=
ENST00000684826.1:c.387G=	ENSP00000509994.1:p.Leu129=
ENST00000687027.1:c.-22G=	ENSP00000508715.1:n.-22G=
ENST00000687863.1:n.2468G=
ENST00000691014.1:c.5853G=	ENSP00000510595.1:p.Leu1951=
ENST00000693617.1:c.387G=	ENSP00000510031.1:p.Leu129=
ENST00000358273.9:c.5823G= MANE Select	ENSP00000351015.4:p.Leu1941=
ENST00000356175.7:c.5760G=	ENSP00000348498.3:p.Leu1920=
ENST00000358273.8:c.5823G=	ENSP00000351015.4:p.Leu1941=
ENST00000456735.6:c.4758G=	ENSP00000389907.2:p.Leu1586=
ENST00000479536.2:c.248G=
ENST00000579081.5:c.5959G=	ENSP00000462408.1:n.5959G=
ENST00000581113.6:n.1140G=
NM_000267.3:c.5760G= , LRG_214t1:c.5760G=	NP_000258.1:p.Leu1920=
NM_001042492.2:c.5823G= , LRG_214t2:c.5823G=	NP_001035957.1:p.Leu1941=
XM_005257983.1:c.5823G=	XP_005258040.1:p.Leu1941=
XM_005257984.1:c.5760G=	XP_005258041.1:p.Leu1920=
XM_006721922.1:c.5853G=	XP_006721985.1:p.Leu1951=
XM_006721923.2:c.5814G=	XP_006721986.1:p.Leu1938=
XM_006721924.1:c.5853G=	XP_006721987.1:p.Leu1951=
XM_006721925.1:c.5790G=	XP_006721988.1:p.Leu1930=
XM_006721926.2:c.5853G=	XP_006721989.1:p.Leu1951=
XM_006721927.1:c.5853G=	XP_006721990.1:p.Leu1951=
XM_011524852.1:c.5850G=	XP_011523154.1:p.Leu1950=
XM_011524853.1:c.5814G=	XP_011523155.1:p.Leu1938=
XM_011524854.1:c.5814G=	XP_011523156.1:p.Leu1938=
XM_011524855.1:c.5814G=	XP_011523157.1:p.Leu1938=
XM_011524856.1:c.5814G=	XP_011523158.1:p.Leu1938=
XM_011524857.1:c.5853G=	XP_011523159.1:p.Leu1951=
NM_001042492.3:c.5823G= MANE Select	NP_001035957.1:p.Leu1941=