Canonical Allele Identifier: CA289387433

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31337867G>A , CM000679.2:g.31337867G>A	GRCh38
NC_000017.10:g.29664885G>A , CM000679.1:g.29664885G>A	GRCh37
NC_000017.9:g.26689011G>A	NCBI36
NG_009018.1:g.247891G>A , LRG_214:g.247891G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.6691G>A MANE Select	NP_001035957.1:p.Glu2231Lys
ENST00000358273.9:c.6691G>A MANE Select	ENSP00000351015.4:p.Glu2231Lys
NM_000267.3:c.6628G>A , LRG_214t1:c.6628G>A	NP_000258.1:p.Glu2210Lys
NM_001042492.2:c.6691G>A , LRG_214t2:c.6691G>A	NP_001035957.1:p.Glu2231Lys
ENST00000356175.7:c.6628G>A	ENSP00000348498.3:p.Glu2210Lys
ENST00000358273.8:c.6691G>A	ENSP00000351015.4:p.Glu2231Lys
ENST00000456735.6:c.5626G>A	ENSP00000389907.2:p.Glu1876Lys
ENST00000471572.6:c.51G>A
ENST00000579081.5:c.6827G>A	ENSP00000462408.1:n.6827G>A
ENST00000581790.5:c.51G>A
ENST00000584328.1:n.105G>A
ENST00000684826.1:c.1255G>A	ENSP00000509994.1:p.Glu419Lys
ENST00000684998.1:n.1805G>A
ENST00000687027.1:c.847G>A	ENSP00000508715.1:p.Glu283Lys
ENST00000687863.1:n.3336G>A
ENST00000691014.1:c.6721G>A	ENSP00000510595.1:p.Glu2241Lys
ENST00000693617.1:c.1255G>A	ENSP00000510031.1:p.Glu419Lys
ENST00000696138.1:c.6673G>A	ENSP00000512431.1:p.Glu2225Lys
XM_005257983.1:c.6691G>A	XP_005258040.1:p.Glu2231Lys
XM_005257984.1:c.6628G>A	XP_005258041.1:p.Glu2210Lys
XM_006721922.1:c.6721G>A	XP_006721985.1:p.Glu2241Lys
XM_006721923.2:c.6682G>A	XP_006721986.1:p.Glu2228Lys
XM_006721924.1:c.6721G>A	XP_006721987.1:p.Glu2241Lys
XM_006721925.1:c.6658G>A	XP_006721988.1:p.Glu2220Lys
XM_006721926.2:c.6721G>A	XP_006721989.1:p.Glu2241Lys
XM_006721927.1:c.6721G>A	XP_006721990.1:p.Glu2241Lys
XM_011524852.1:c.6718G>A	XP_011523154.1:p.Glu2240Lys
XM_011524853.1:c.6682G>A	XP_011523155.1:p.Glu2228Lys
XM_011524854.1:c.6682G>A	XP_011523156.1:p.Glu2228Lys
XM_011524855.1:c.6682G>A	XP_011523157.1:p.Glu2228Lys
XM_011524856.1:c.6682G>A	XP_011523158.1:p.Glu2228Lys
XM_011524857.1:c.6721G>A	XP_011523159.1:p.Glu2241Lys