Canonical Allele Identifier: CA499234273

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29665085T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338067T>G , CM000679.2:g.31338067T>G	GRCh38
NC_000017.10:g.29665085T>G , CM000679.1:g.29665085T>G	GRCh37
NC_000017.9:g.26689211T>G	NCBI36
NG_009018.1:g.248091T>G , LRG_214:g.248091T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6729T>G	ENSP00000512431.1:p.Leu2243=
ENST00000684826.1:c.1311T>G	ENSP00000509994.1:p.Leu437=
ENST00000684998.1:n.2005T>G
ENST00000687027.1:c.903T>G	ENSP00000508715.1:p.Leu301=
ENST00000687863.1:n.3392T>G
ENST00000691014.1:c.6777T>G	ENSP00000510595.1:p.Leu2259=
ENST00000693617.1:c.1311T>G	ENSP00000510031.1:p.Leu437=
ENST00000358273.9:c.6747T>G MANE Select	ENSP00000351015.4:p.Leu2249=
ENST00000356175.7:c.6684T>G	ENSP00000348498.3:p.Leu2228=
ENST00000358273.8:c.6747T>G	ENSP00000351015.4:p.Leu2249=
ENST00000456735.6:c.5682T>G	ENSP00000389907.2:p.Leu1894=
ENST00000471572.6:c.130T>G
ENST00000579081.5:c.6883T>G	ENSP00000462408.1:n.6883T>G
ENST00000581790.5:c.64+187T>G
ENST00000584328.1:n.161T>G
NM_000267.3:c.6684T>G , LRG_214t1:c.6684T>G	NP_000258.1:p.Leu2228=
NM_001042492.2:c.6747T>G , LRG_214t2:c.6747T>G	NP_001035957.1:p.Leu2249=
XM_005257983.1:c.6747T>G	XP_005258040.1:p.Leu2249=
XM_005257984.1:c.6684T>G	XP_005258041.1:p.Leu2228=
XM_006721922.1:c.6777T>G	XP_006721985.1:p.Leu2259=
XM_006721923.2:c.6738T>G	XP_006721986.1:p.Leu2246=
XM_006721924.1:c.6777T>G	XP_006721987.1:p.Leu2259=
XM_006721925.1:c.6714T>G	XP_006721988.1:p.Leu2238=
XM_006721926.2:c.6777T>G	XP_006721989.1:p.Leu2259=
XM_006721927.1:c.6777T>G	XP_006721990.1:p.Leu2259=
XM_011524852.1:c.6774T>G	XP_011523154.1:p.Leu2258=
XM_011524853.1:c.6738T>G	XP_011523155.1:p.Leu2246=
XM_011524854.1:c.6738T>G	XP_011523156.1:p.Leu2246=
XM_011524855.1:c.6738T>G	XP_011523157.1:p.Leu2246=
XM_011524856.1:c.6738T>G	XP_011523158.1:p.Leu2246=
XM_011524857.1:c.6777T>G	XP_011523159.1:p.Leu2259=
NM_001042492.3:c.6747T>G MANE Select	NP_001035957.1:p.Leu2249=