Canonical Allele Identifier: CA399010519

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29657510A>G (hg19) ; chr17:g.31330492A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330492A>G , CM000679.2:g.31330492A>G	GRCh38
NC_000017.10:g.29657510A>G , CM000679.1:g.29657510A>G	GRCh37
NC_000017.9:g.26681636A>G	NCBI36
NG_009018.1:g.240516A>G , LRG_214:g.240516A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1994A>G	ENSP00000492721.2:n.1994A>G
ENST00000696138.1:c.5788A>G	ENSP00000512431.1:p.Lys1930Glu
ENST00000684826.1:c.370A>G	ENSP00000509994.1:p.Lys124Glu
ENST00000687027.1:c.-39A>G	ENSP00000508715.1:n.-39A>G
ENST00000687863.1:n.2451A>G
ENST00000691014.1:c.5836A>G	ENSP00000510595.1:p.Lys1946Glu
ENST00000693617.1:c.370A>G	ENSP00000510031.1:p.Lys124Glu
ENST00000358273.9:c.5806A>G MANE Select	ENSP00000351015.4:p.Lys1936Glu
ENST00000356175.7:c.5743A>G	ENSP00000348498.3:p.Lys1915Glu
ENST00000358273.8:c.5806A>G	ENSP00000351015.4:p.Lys1936Glu
ENST00000456735.6:c.4741A>G	ENSP00000389907.2:p.Lys1581Glu
ENST00000479536.2:c.164A>G
ENST00000493220.5:n.4279A>G
ENST00000579081.5:c.5942A>G	ENSP00000462408.1:n.5942A>G
ENST00000581113.6:n.1123A>G
NM_000267.3:c.5743A>G , LRG_214t1:c.5743A>G	NP_000258.1:p.Lys1915Glu
NM_001042492.2:c.5806A>G , LRG_214t2:c.5806A>G	NP_001035957.1:p.Lys1936Glu
XM_005257983.1:c.5806A>G	XP_005258040.1:p.Lys1936Glu
XM_005257984.1:c.5743A>G	XP_005258041.1:p.Lys1915Glu
XM_006721922.1:c.5836A>G	XP_006721985.1:p.Lys1946Glu
XM_006721923.2:c.5797A>G	XP_006721986.1:p.Lys1933Glu
XM_006721924.1:c.5836A>G	XP_006721987.1:p.Lys1946Glu
XM_006721925.1:c.5773A>G	XP_006721988.1:p.Lys1925Glu
XM_006721926.2:c.5836A>G	XP_006721989.1:p.Lys1946Glu
XM_006721927.1:c.5836A>G	XP_006721990.1:p.Lys1946Glu
XM_011524852.1:c.5833A>G	XP_011523154.1:p.Lys1945Glu
XM_011524853.1:c.5797A>G	XP_011523155.1:p.Lys1933Glu
XM_011524854.1:c.5797A>G	XP_011523156.1:p.Lys1933Glu
XM_011524855.1:c.5797A>G	XP_011523157.1:p.Lys1933Glu
XM_011524856.1:c.5797A>G	XP_011523158.1:p.Lys1933Glu
XM_011524857.1:c.5836A>G	XP_011523159.1:p.Lys1946Glu
NM_001042492.3:c.5806A>G MANE Select	NP_001035957.1:p.Lys1936Glu