Canonical Allele Identifier: CA10583518

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31337475C>T , CM000679.2:g.31337475C>T	GRCh38
NC_000017.10:g.29664493C>T , CM000679.1:g.29664493C>T	GRCh37
NC_000017.9:g.26688619C>T	NCBI36
NG_009018.1:g.247499C>T , LRG_214:g.247499C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.6535C>T MANE Select	NP_001035957.1:p.Arg2179Cys
ENST00000358273.9:c.6535C>T MANE Select	ENSP00000351015.4:p.Arg2179Cys
NM_000267.3:c.6472C>T , LRG_214t1:c.6472C>T	NP_000258.1:p.Arg2158Cys
NM_001042492.2:c.6535C>T , LRG_214t2:c.6535C>T	NP_001035957.1:p.Arg2179Cys
ENST00000356175.7:c.6472C>T	ENSP00000348498.3:p.Arg2158Cys
ENST00000358273.8:c.6535C>T	ENSP00000351015.4:p.Arg2179Cys
ENST00000456735.6:c.5470C>T	ENSP00000389907.2:p.Arg1824Cys
ENST00000579081.5:c.6671C>T	ENSP00000462408.1:n.6671C>T
ENST00000684826.1:c.1099C>T	ENSP00000509994.1:p.Arg367Cys
ENST00000684998.1:n.1413C>T
ENST00000687027.1:c.691C>T	ENSP00000508715.1:p.Arg231Cys
ENST00000687863.1:n.3180C>T
ENST00000691014.1:c.6565C>T	ENSP00000510595.1:p.Arg2189Cys
ENST00000693617.1:c.1099C>T	ENSP00000510031.1:p.Arg367Cys
ENST00000696138.1:c.6517C>T	ENSP00000512431.1:p.Arg2173Cys
XM_005257983.1:c.6535C>T	XP_005258040.1:p.Arg2179Cys
XM_005257984.1:c.6472C>T	XP_005258041.1:p.Arg2158Cys
XM_006721922.1:c.6565C>T	XP_006721985.1:p.Arg2189Cys
XM_006721923.2:c.6526C>T	XP_006721986.1:p.Arg2176Cys
XM_006721924.1:c.6565C>T	XP_006721987.1:p.Arg2189Cys
XM_006721925.1:c.6502C>T	XP_006721988.1:p.Arg2168Cys
XM_006721926.2:c.6565C>T	XP_006721989.1:p.Arg2189Cys
XM_006721927.1:c.6565C>T	XP_006721990.1:p.Arg2189Cys
XM_011524852.1:c.6562C>T	XP_011523154.1:p.Arg2188Cys
XM_011524853.1:c.6526C>T	XP_011523155.1:p.Arg2176Cys
XM_011524854.1:c.6526C>T	XP_011523156.1:p.Arg2176Cys
XM_011524855.1:c.6526C>T	XP_011523157.1:p.Arg2176Cys
XM_011524856.1:c.6526C>T	XP_011523158.1:p.Arg2176Cys
XM_011524857.1:c.6565C>T	XP_011523159.1:p.Arg2189Cys