Canonical Allele Identifier: CA399000133

Gene: NF1

Linked Data

• dbSNP Id: rs1225501462
• MyVariant Identifiers: chr17:g.29588740C>A (hg19) ; chr17:g.31261722C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261722C>A , CM000679.2:g.31261722C>A	GRCh38
NC_000017.10:g.29588740C>A , CM000679.1:g.29588740C>A	GRCh37
NC_000017.9:g.26612866C>A	NCBI36
NG_009018.1:g.171746C>A , LRG_214:g.171746C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.391C>A	ENSP00000492721.2:p.Leu131Met
ENST00000696138.1:c.4571C>A	ENSP00000512431.1:p.Ala1524Asp
ENST00000696140.1:n.695C>A
ENST00000696141.1:c.580C>A
ENST00000687863.1:n.1234C>A
ENST00000691014.1:c.4619C>A	ENSP00000510595.1:p.Ala1540Asp
ENST00000358273.9:c.4589C>A MANE Select	ENSP00000351015.4:p.Ala1530Asp
ENST00000356175.7:c.4526C>A	ENSP00000348498.3:p.Ala1509Asp
ENST00000358273.8:c.4589C>A	ENSP00000351015.4:p.Ala1530Asp
ENST00000456735.6:c.3524C>A	ENSP00000389907.2:p.Ala1175Asp
ENST00000466819.5:c.1105C>A
ENST00000479614.1:c.1042C>A
ENST00000493220.5:n.3062C>A
ENST00000579081.5:c.4628C>A	ENSP00000462408.1:p.Ala1543Asp
NM_000267.3:c.4526C>A , LRG_214t1:c.4526C>A	NP_000258.1:p.Ala1509Asp
NM_001042492.2:c.4589C>A , LRG_214t2:c.4589C>A	NP_001035957.1:p.Ala1530Asp
XM_005257983.1:c.4589C>A	XP_005258040.1:p.Ala1530Asp
XM_005257984.1:c.4526C>A	XP_005258041.1:p.Ala1509Asp
XM_006721922.1:c.4619C>A	XP_006721985.1:p.Ala1540Asp
XM_006721923.2:c.4580C>A	XP_006721986.1:p.Ala1527Asp
XM_006721924.1:c.4619C>A	XP_006721987.1:p.Ala1540Asp
XM_006721925.1:c.4556C>A	XP_006721988.1:p.Ala1519Asp
XM_006721926.2:c.4619C>A	XP_006721989.1:p.Ala1540Asp
XM_006721927.1:c.4619C>A	XP_006721990.1:p.Ala1540Asp
XM_006721928.2:c.4619C>A	XP_006721991.1:p.Ala1540Asp
XM_011524852.1:c.4616C>A	XP_011523154.1:p.Ala1539Asp
XM_011524853.1:c.4580C>A	XP_011523155.1:p.Ala1527Asp
XM_011524854.1:c.4580C>A	XP_011523156.1:p.Ala1527Asp
XM_011524855.1:c.4580C>A	XP_011523157.1:p.Ala1527Asp
XM_011524856.1:c.4580C>A	XP_011523158.1:p.Ala1527Asp
XM_011524857.1:c.4619C>A	XP_011523159.1:p.Ala1540Asp
NM_001042492.3:c.4589C>A MANE Select	NP_001035957.1:p.Ala1530Asp