Canonical Allele Identifier: CA399014222

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338138A>C , CM000679.2:g.31338138A>C	GRCh38
NC_000017.10:g.29665156A>C , CM000679.1:g.29665156A>C	GRCh37
NC_000017.9:g.26689282A>C	NCBI36
NG_009018.1:g.248162A>C , LRG_214:g.248162A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.6818A>C MANE Select	NP_001035957.1:p.Lys2273Thr
ENST00000358273.9:c.6818A>C MANE Select	ENSP00000351015.4:p.Lys2273Thr
NM_000267.3:c.6755A>C , LRG_214t1:c.6755A>C	NP_000258.1:p.Lys2252Thr
NM_001042492.2:c.6818A>C , LRG_214t2:c.6818A>C	NP_001035957.1:p.Lys2273Thr
ENST00000356175.7:c.6755A>C	ENSP00000348498.3:p.Lys2252Thr
ENST00000358273.8:c.6818A>C	ENSP00000351015.4:p.Lys2273Thr
ENST00000456735.6:c.5753A>C	ENSP00000389907.2:p.Lys1918Thr
ENST00000471572.6:c.201A>C
ENST00000579081.5:c.6954A>C	ENSP00000462408.1:n.6954A>C
ENST00000581790.5:c.64+258A>C
ENST00000584328.1:n.232A>C
ENST00000684826.1:c.1382A>C	ENSP00000509994.1:p.Lys461Thr
ENST00000684998.1:n.2076A>C
ENST00000687027.1:c.974A>C	ENSP00000508715.1:p.Lys325Thr
ENST00000687863.1:n.3463A>C
ENST00000691014.1:c.6848A>C	ENSP00000510595.1:p.Lys2283Thr
ENST00000693617.1:c.1382A>C	ENSP00000510031.1:p.Lys461Thr
ENST00000696138.1:c.6800A>C	ENSP00000512431.1:p.Lys2267Thr
XM_005257983.1:c.6818A>C	XP_005258040.1:p.Lys2273Thr
XM_005257984.1:c.6755A>C	XP_005258041.1:p.Lys2252Thr
XM_006721922.1:c.6848A>C	XP_006721985.1:p.Lys2283Thr
XM_006721923.2:c.6809A>C	XP_006721986.1:p.Lys2270Thr
XM_006721924.1:c.6848A>C	XP_006721987.1:p.Lys2283Thr
XM_006721925.1:c.6785A>C	XP_006721988.1:p.Lys2262Thr
XM_006721926.2:c.6848A>C	XP_006721989.1:p.Lys2283Thr
XM_006721927.1:c.6848A>C	XP_006721990.1:p.Lys2283Thr
XM_011524852.1:c.6845A>C	XP_011523154.1:p.Lys2282Thr
XM_011524853.1:c.6809A>C	XP_011523155.1:p.Lys2270Thr
XM_011524854.1:c.6809A>C	XP_011523156.1:p.Lys2270Thr
XM_011524855.1:c.6809A>C	XP_011523157.1:p.Lys2270Thr
XM_011524856.1:c.6809A>C	XP_011523158.1:p.Lys2270Thr
XM_011524857.1:c.6848A>C	XP_011523159.1:p.Lys2283Thr