Canonical Allele Identifier: CA499233753

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29587522T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31260504T>G , CM000679.2:g.31260504T>G	GRCh38
NC_000017.10:g.29587522T>G , CM000679.1:g.29587522T>G	GRCh37
NC_000017.9:g.26611648T>G	NCBI36
NG_009018.1:g.170528T>G , LRG_214:g.170528T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.354T>G	ENSP00000492721.2:p.Leu118=
ENST00000696138.1:c.4548T>G	ENSP00000512431.1:p.Leu1516=
ENST00000696140.1:n.672T>G
ENST00000696141.1:c.557T>G
ENST00000687863.1:n.1211T>G
ENST00000691014.1:c.4596T>G	ENSP00000510595.1:p.Leu1532=
ENST00000691649.1:n.1777T>G
ENST00000358273.9:c.4566T>G MANE Select	ENSP00000351015.4:p.Leu1522=
ENST00000356175.7:c.4503T>G	ENSP00000348498.3:p.Leu1501=
ENST00000358273.8:c.4566T>G	ENSP00000351015.4:p.Leu1522=
ENST00000456735.6:c.3501T>G	ENSP00000389907.2:p.Leu1167=
ENST00000466819.5:c.1082T>G
ENST00000479614.1:c.1019T>G
ENST00000493220.5:n.3039T>G
ENST00000579081.5:c.4605T>G	ENSP00000462408.1:p.Leu1535=
NM_000267.3:c.4503T>G , LRG_214t1:c.4503T>G	NP_000258.1:p.Leu1501=
NM_001042492.2:c.4566T>G , LRG_214t2:c.4566T>G	NP_001035957.1:p.Leu1522=
XM_005257983.1:c.4566T>G	XP_005258040.1:p.Leu1522=
XM_005257984.1:c.4503T>G	XP_005258041.1:p.Leu1501=
XM_006721922.1:c.4596T>G	XP_006721985.1:p.Leu1532=
XM_006721923.2:c.4557T>G	XP_006721986.1:p.Leu1519=
XM_006721924.1:c.4596T>G	XP_006721987.1:p.Leu1532=
XM_006721925.1:c.4533T>G	XP_006721988.1:p.Leu1511=
XM_006721926.2:c.4596T>G	XP_006721989.1:p.Leu1532=
XM_006721927.1:c.4596T>G	XP_006721990.1:p.Leu1532=
XM_006721928.2:c.4596T>G	XP_006721991.1:p.Leu1532=
XM_011524852.1:c.4593T>G	XP_011523154.1:p.Leu1531=
XM_011524853.1:c.4557T>G	XP_011523155.1:p.Leu1519=
XM_011524854.1:c.4557T>G	XP_011523156.1:p.Leu1519=
XM_011524855.1:c.4557T>G	XP_011523157.1:p.Leu1519=
XM_011524856.1:c.4557T>G	XP_011523158.1:p.Leu1519=
XM_011524857.1:c.4596T>G	XP_011523159.1:p.Leu1532=
NM_001042492.3:c.4566T>G MANE Select	NP_001035957.1:p.Leu1522=