Canonical Allele Identifier: CA10583517

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31336852C>T , CM000679.2:g.31336852C>T	GRCh38
NC_000017.10:g.29663870C>T , CM000679.1:g.29663870C>T	GRCh37
NC_000017.9:g.26687996C>T	NCBI36
NG_009018.1:g.246876C>T , LRG_214:g.246876C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.6365C>T MANE Select	NP_001035957.1:p.Thr2122Ile
ENST00000358273.9:c.6365C>T MANE Select	ENSP00000351015.4:p.Thr2122Ile
NM_000267.3:c.6302C>T , LRG_214t1:c.6302C>T	NP_000258.1:p.Thr2101Ile
NM_001042492.2:c.6365C>T , LRG_214t2:c.6365C>T	NP_001035957.1:p.Thr2122Ile
ENST00000356175.7:c.6302C>T	ENSP00000348498.3:p.Thr2101Ile
ENST00000358273.8:c.6365C>T	ENSP00000351015.4:p.Thr2122Ile
ENST00000456735.6:c.5300C>T	ENSP00000389907.2:p.Thr1767Ile
ENST00000479536.2:c.790C>T
ENST00000579081.5:c.6501C>T	ENSP00000462408.1:n.6501C>T
ENST00000684826.1:c.929C>T	ENSP00000509994.1:p.Thr310Ile
ENST00000684998.1:n.790C>T
ENST00000687027.1:c.521C>T	ENSP00000508715.1:p.Thr174Ile
ENST00000687863.1:n.3010C>T
ENST00000691014.1:c.6395C>T	ENSP00000510595.1:p.Thr2132Ile
ENST00000693617.1:c.929C>T	ENSP00000510031.1:p.Thr310Ile
ENST00000696138.1:c.6347C>T	ENSP00000512431.1:p.Thr2116Ile
XM_005257983.1:c.6365C>T	XP_005258040.1:p.Thr2122Ile
XM_005257984.1:c.6302C>T	XP_005258041.1:p.Thr2101Ile
XM_006721922.1:c.6395C>T	XP_006721985.1:p.Thr2132Ile
XM_006721923.2:c.6356C>T	XP_006721986.1:p.Thr2119Ile
XM_006721924.1:c.6395C>T	XP_006721987.1:p.Thr2132Ile
XM_006721925.1:c.6332C>T	XP_006721988.1:p.Thr2111Ile
XM_006721926.2:c.6395C>T	XP_006721989.1:p.Thr2132Ile
XM_006721927.1:c.6395C>T	XP_006721990.1:p.Thr2132Ile
XM_011524852.1:c.6392C>T	XP_011523154.1:p.Thr2131Ile
XM_011524853.1:c.6356C>T	XP_011523155.1:p.Thr2119Ile
XM_011524854.1:c.6356C>T	XP_011523156.1:p.Thr2119Ile
XM_011524855.1:c.6356C>T	XP_011523157.1:p.Thr2119Ile
XM_011524856.1:c.6356C>T	XP_011523158.1:p.Thr2119Ile
XM_011524857.1:c.6395C>T	XP_011523159.1:p.Thr2132Ile