Canonical Allele Identifier: CA499233848

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29588756T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261738T>G , CM000679.2:g.31261738T>G	GRCh38
NC_000017.10:g.29588756T>G , CM000679.1:g.29588756T>G	GRCh37
NC_000017.9:g.26612882T>G	NCBI36
NG_009018.1:g.171762T>G , LRG_214:g.171762T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.407T>G	ENSP00000492721.2:p.Leu136Arg
ENST00000696138.1:c.4587T>G	ENSP00000512431.1:p.Pro1529=
ENST00000696140.1:n.711T>G
ENST00000696141.1:c.596T>G
ENST00000687863.1:n.1250T>G
ENST00000691014.1:c.4635T>G	ENSP00000510595.1:p.Pro1545=
ENST00000358273.9:c.4605T>G MANE Select	ENSP00000351015.4:p.Pro1535=
ENST00000356175.7:c.4542T>G	ENSP00000348498.3:p.Pro1514=
ENST00000358273.8:c.4605T>G	ENSP00000351015.4:p.Pro1535=
ENST00000456735.6:c.3540T>G	ENSP00000389907.2:p.Pro1180=
ENST00000466819.5:c.1121T>G
ENST00000479614.1:c.1058T>G
ENST00000493220.5:n.3078T>G
ENST00000579081.5:c.4644T>G	ENSP00000462408.1:p.Pro1548=
NM_000267.3:c.4542T>G , LRG_214t1:c.4542T>G	NP_000258.1:p.Pro1514=
NM_001042492.2:c.4605T>G , LRG_214t2:c.4605T>G	NP_001035957.1:p.Pro1535=
XM_005257983.1:c.4605T>G	XP_005258040.1:p.Pro1535=
XM_005257984.1:c.4542T>G	XP_005258041.1:p.Pro1514=
XM_006721922.1:c.4635T>G	XP_006721985.1:p.Pro1545=
XM_006721923.2:c.4596T>G	XP_006721986.1:p.Pro1532=
XM_006721924.1:c.4635T>G	XP_006721987.1:p.Pro1545=
XM_006721925.1:c.4572T>G	XP_006721988.1:p.Pro1524=
XM_006721926.2:c.4635T>G	XP_006721989.1:p.Pro1545=
XM_006721927.1:c.4635T>G	XP_006721990.1:p.Pro1545=
XM_006721928.2:c.4635T>G	XP_006721991.1:p.Pro1545=
XM_011524852.1:c.4632T>G	XP_011523154.1:p.Pro1544=
XM_011524853.1:c.4596T>G	XP_011523155.1:p.Pro1532=
XM_011524854.1:c.4596T>G	XP_011523156.1:p.Pro1532=
XM_011524855.1:c.4596T>G	XP_011523157.1:p.Pro1532=
XM_011524856.1:c.4596T>G	XP_011523158.1:p.Pro1532=
XM_011524857.1:c.4635T>G	XP_011523159.1:p.Pro1545=
NM_001042492.3:c.4605T>G MANE Select	NP_001035957.1:p.Pro1535=