Canonical Allele Identifier: CA2255503253

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31095083T= , CM000679.2:g.31095083T=	GRCh38
NC_000017.10:g.29422101T= , CM000679.1:g.29422101T=	GRCh37
NC_000017.9:g.26446227T=	NCBI36
NG_009018.1:g.5107T= , LRG_214:g.5107T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.-227T=	ENSP00000512431.1:n.-227T=
ENST00000691014.1:c.-227T=	ENSP00000510595.1:n.-227T=
ENST00000358273.9:c.-227T= MANE Select	ENSP00000351015.4:n.-227T=
ENST00000356175.7:c.-227T=	ENSP00000348498.3:n.-227T=
ENST00000358273.8:c.-227T=	ENSP00000351015.4:n.-227T=
ENST00000431387.8:c.-227T=	ENSP00000412921.4:n.-227T=
ENST00000487476.5:n.157T=
NM_000267.3:c.-227T= , LRG_214t1:c.-227T=	NP_000258.1:n.-227T=
NM_001042492.2:c.-227T= , LRG_214t2:c.-227T=	NP_001035957.1:n.-227T=
NM_001128147.2:c.-227T=	NP_001121619.1:n.-227T=
XM_005257983.1:c.-227T=	XP_005258040.1:n.-227T=
XM_005257984.1:c.-227T=	XP_005258041.1:n.-227T=
XM_006721922.1:c.-227T=	XP_006721985.1:n.-227T=
XM_006721923.2:c.21+23034T=	XP_006721986.1:n.21+23034T=
XM_006721924.1:c.-227T=	XP_006721987.1:n.-227T=
XM_006721925.1:c.-227T=	XP_006721988.1:n.-227T=
XM_006721926.2:c.-227T=	XP_006721989.1:n.-227T=
XM_006721927.1:c.-227T=	XP_006721990.1:n.-227T=
XM_006721928.2:c.-227T=	XP_006721991.1:n.-227T=
XM_011524852.1:c.-227T=	XP_011523154.1:n.-227T=
XM_011524853.1:c.21+23034T=	XP_011523155.1:n.21+23034T=
XM_011524854.1:c.21+23034T=	XP_011523156.1:n.21+23034T=
XM_011524855.1:c.21+23034T=	XP_011523157.1:n.21+23034T=
XM_011524856.1:c.21+23034T=	XP_011523158.1:n.21+23034T=
XM_011524857.1:c.-227T=	XP_011523159.1:n.-227T=
NM_001042492.3:c.-227T= MANE Select	NP_001035957.1:n.-227T=
NM_001128147.3:c.-227T=	NP_001121619.1:n.-227T=