Canonical Allele Identifier: CA398984205

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229145C>A , CM000679.2:g.31229145C>A	GRCh38
NC_000017.10:g.29556163C>A , CM000679.1:g.29556163C>A	GRCh37
NC_000017.9:g.26580289C>A	NCBI36
NG_009018.1:g.139169C>A , LRG_214:g.139169C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.2530C>A MANE Select	NP_001035957.1:p.Leu844Ile
ENST00000358273.9:c.2530C>A MANE Select	ENSP00000351015.4:p.Leu844Ile
NM_000267.3:c.2530C>A , LRG_214t1:c.2530C>A	NP_000258.1:p.Leu844Ile
NM_001042492.2:c.2530C>A , LRG_214t2:c.2530C>A	NP_001035957.1:p.Leu844Ile
ENST00000356175.7:c.2530C>A	ENSP00000348498.3:p.Leu844Ile
ENST00000358273.8:c.2530C>A	ENSP00000351015.4:p.Leu844Ile
ENST00000456735.6:c.1528C>A	ENSP00000389907.2:p.Leu510Ile
ENST00000493220.5:n.697C>A
ENST00000495910.6:c.2305C>A
ENST00000579081.5:c.2632C>A	ENSP00000462408.1:p.Leu878Ile
ENST00000691014.1:c.2560C>A	ENSP00000510595.1:p.Leu854Ile
ENST00000696138.1:c.2575C>A	ENSP00000512431.1:p.Leu859Ile
XM_005257983.1:c.2530C>A	XP_005258040.1:p.Leu844Ile
XM_005257984.1:c.2530C>A	XP_005258041.1:p.Leu844Ile
XM_006721922.1:c.2560C>A	XP_006721985.1:p.Leu854Ile
XM_006721923.2:c.2521C>A	XP_006721986.1:p.Leu841Ile
XM_006721924.1:c.2560C>A	XP_006721987.1:p.Leu854Ile
XM_006721925.1:c.2560C>A	XP_006721988.1:p.Leu854Ile
XM_006721926.2:c.2560C>A	XP_006721989.1:p.Leu854Ile
XM_006721927.1:c.2560C>A	XP_006721990.1:p.Leu854Ile
XM_006721928.2:c.2560C>A	XP_006721991.1:p.Leu854Ile
XM_011524852.1:c.2557C>A	XP_011523154.1:p.Leu853Ile
XM_011524853.1:c.2521C>A	XP_011523155.1:p.Leu841Ile
XM_011524854.1:c.2521C>A	XP_011523156.1:p.Leu841Ile
XM_011524855.1:c.2521C>A	XP_011523157.1:p.Leu841Ile
XM_011524856.1:c.2521C>A	XP_011523158.1:p.Leu841Ile
XM_011524857.1:c.2560C>A	XP_011523159.1:p.Leu854Ile