Canonical Allele Identifier: CA399011030

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31336349A>T , CM000679.2:g.31336349A>T	GRCh38
NC_000017.10:g.29663367A>T , CM000679.1:g.29663367A>T	GRCh37
NC_000017.9:g.26687493A>T	NCBI36
NG_009018.1:g.246373A>T , LRG_214:g.246373A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.6023A>T MANE Select	NP_001035957.1:p.Asp2008Val
ENST00000358273.9:c.6023A>T MANE Select	ENSP00000351015.4:p.Asp2008Val
NM_000267.3:c.5960A>T , LRG_214t1:c.5960A>T	NP_000258.1:p.Asp1987Val
NM_001042492.2:c.6023A>T , LRG_214t2:c.6023A>T	NP_001035957.1:p.Asp2008Val
ENST00000356175.7:c.5960A>T	ENSP00000348498.3:p.Asp1987Val
ENST00000358273.8:c.6023A>T	ENSP00000351015.4:p.Asp2008Val
ENST00000456735.6:c.4958A>T	ENSP00000389907.2:p.Asp1653Val
ENST00000479536.2:c.448A>T
ENST00000579081.5:c.6159A>T	ENSP00000462408.1:n.6159A>T
ENST00000581113.6:n.1340A>T
ENST00000581113.7:c.2211A>T	ENSP00000492721.2:n.2211A>T
ENST00000684826.1:c.587A>T	ENSP00000509994.1:p.Asp196Val
ENST00000684998.1:n.448A>T
ENST00000687027.1:c.179A>T	ENSP00000508715.1:p.Asp60Val
ENST00000687863.1:n.2668A>T
ENST00000691014.1:c.6053A>T	ENSP00000510595.1:p.Asp2018Val
ENST00000693617.1:c.587A>T	ENSP00000510031.1:p.Asp196Val
ENST00000696138.1:c.6005A>T	ENSP00000512431.1:p.Asp2002Val
XM_005257983.1:c.6023A>T	XP_005258040.1:p.Asp2008Val
XM_005257984.1:c.5960A>T	XP_005258041.1:p.Asp1987Val
XM_006721922.1:c.6053A>T	XP_006721985.1:p.Asp2018Val
XM_006721923.2:c.6014A>T	XP_006721986.1:p.Asp2005Val
XM_006721924.1:c.6053A>T	XP_006721987.1:p.Asp2018Val
XM_006721925.1:c.5990A>T	XP_006721988.1:p.Asp1997Val
XM_006721926.2:c.6053A>T	XP_006721989.1:p.Asp2018Val
XM_006721927.1:c.6053A>T	XP_006721990.1:p.Asp2018Val
XM_011524852.1:c.6050A>T	XP_011523154.1:p.Asp2017Val
XM_011524853.1:c.6014A>T	XP_011523155.1:p.Asp2005Val
XM_011524854.1:c.6014A>T	XP_011523156.1:p.Asp2005Val
XM_011524855.1:c.6014A>T	XP_011523157.1:p.Asp2005Val
XM_011524856.1:c.6014A>T	XP_011523158.1:p.Asp2005Val
XM_011524857.1:c.6053A>T	XP_011523159.1:p.Asp2018Val