Canonical Allele Identifier: CA398999899

Gene: NF1

Linked Data

• ClinVar Variation Id: 1692338
• ClinVar RCV Id: RCV002258514
• dbSNP Id: rs2067665932
• MyVariant Identifiers: chr17:g.29587518A>T (hg19) ; chr17:g.31260500A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31260500A>T , CM000679.2:g.31260500A>T	GRCh38
NC_000017.10:g.29587518A>T , CM000679.1:g.29587518A>T	GRCh37
NC_000017.9:g.26611644A>T	NCBI36
NG_009018.1:g.170524A>T , LRG_214:g.170524A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.350A>T	ENSP00000492721.2:p.Tyr117Phe
ENST00000696138.1:c.4544A>T	ENSP00000512431.1:p.Tyr1515Phe
ENST00000696140.1:n.668A>T
ENST00000696141.1:c.553A>T
ENST00000687863.1:n.1207A>T
ENST00000691014.1:c.4592A>T	ENSP00000510595.1:p.Tyr1531Phe
ENST00000691649.1:n.1773A>T
ENST00000358273.9:c.4562A>T MANE Select	ENSP00000351015.4:p.Tyr1521Phe
ENST00000356175.7:c.4499A>T	ENSP00000348498.3:p.Tyr1500Phe
ENST00000358273.8:c.4562A>T	ENSP00000351015.4:p.Tyr1521Phe
ENST00000456735.6:c.3497A>T	ENSP00000389907.2:p.Tyr1166Phe
ENST00000466819.5:c.1078A>T
ENST00000479614.1:c.1015A>T
ENST00000493220.5:n.3035A>T
ENST00000579081.5:c.4601A>T	ENSP00000462408.1:p.Tyr1534Phe
NM_000267.3:c.4499A>T , LRG_214t1:c.4499A>T	NP_000258.1:p.Tyr1500Phe
NM_001042492.2:c.4562A>T , LRG_214t2:c.4562A>T	NP_001035957.1:p.Tyr1521Phe
XM_005257983.1:c.4562A>T	XP_005258040.1:p.Tyr1521Phe
XM_005257984.1:c.4499A>T	XP_005258041.1:p.Tyr1500Phe
XM_006721922.1:c.4592A>T	XP_006721985.1:p.Tyr1531Phe
XM_006721923.2:c.4553A>T	XP_006721986.1:p.Tyr1518Phe
XM_006721924.1:c.4592A>T	XP_006721987.1:p.Tyr1531Phe
XM_006721925.1:c.4529A>T	XP_006721988.1:p.Tyr1510Phe
XM_006721926.2:c.4592A>T	XP_006721989.1:p.Tyr1531Phe
XM_006721927.1:c.4592A>T	XP_006721990.1:p.Tyr1531Phe
XM_006721928.2:c.4592A>T	XP_006721991.1:p.Tyr1531Phe
XM_011524852.1:c.4589A>T	XP_011523154.1:p.Tyr1530Phe
XM_011524853.1:c.4553A>T	XP_011523155.1:p.Tyr1518Phe
XM_011524854.1:c.4553A>T	XP_011523156.1:p.Tyr1518Phe
XM_011524855.1:c.4553A>T	XP_011523157.1:p.Tyr1518Phe
XM_011524856.1:c.4553A>T	XP_011523158.1:p.Tyr1518Phe
XM_011524857.1:c.4592A>T	XP_011523159.1:p.Tyr1531Phe
NM_001042492.3:c.4562A>T MANE Select	NP_001035957.1:p.Tyr1521Phe