Canonical Allele Identifier: CA499232470

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29483003T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31155985T>G , CM000679.2:g.31155985T>G	GRCh38
NC_000017.10:g.29483003T>G , CM000679.1:g.29483003T>G	GRCh37
NC_000017.9:g.26507129T>G	NCBI36
NG_009018.1:g.66009T>G , LRG_214:g.66009T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.63T>G	ENSP00000512431.1:p.Leu21=
ENST00000691014.1:c.63T>G	ENSP00000510595.1:p.Leu21=
ENST00000358273.9:c.63T>G MANE Select	ENSP00000351015.4:p.Leu21=
ENST00000356175.7:c.63T>G	ENSP00000348498.3:p.Leu21=
ENST00000358273.8:c.63T>G	ENSP00000351015.4:p.Leu21=
ENST00000431387.8:c.63T>G	ENSP00000412921.4:p.Leu21=
ENST00000487476.5:n.446T>G
ENST00000489712.6:c.-139T>G	ENSP00000467284.1:n.-139T>G
ENST00000579081.5:c.165T>G	ENSP00000462408.1:p.Leu55=
NM_000267.3:c.63T>G , LRG_214t1:c.63T>G	NP_000258.1:p.Leu21=
NM_001042492.2:c.63T>G , LRG_214t2:c.63T>G	NP_001035957.1:p.Leu21=
NM_001128147.2:c.63T>G	NP_001121619.1:p.Leu21=
XM_005257983.1:c.63T>G	XP_005258040.1:p.Leu21=
XM_005257984.1:c.63T>G	XP_005258041.1:p.Leu21=
XM_006721922.1:c.63T>G	XP_006721985.1:p.Leu21=
XM_006721923.2:c.24T>G	XP_006721986.1:p.Leu8=
XM_006721924.1:c.63T>G	XP_006721987.1:p.Leu21=
XM_006721925.1:c.63T>G	XP_006721988.1:p.Leu21=
XM_006721926.2:c.63T>G	XP_006721989.1:p.Leu21=
XM_006721927.1:c.63T>G	XP_006721990.1:p.Leu21=
XM_006721928.2:c.63T>G	XP_006721991.1:p.Leu21=
XM_011524852.1:c.63T>G	XP_011523154.1:p.Leu21=
XM_011524853.1:c.24T>G	XP_011523155.1:p.Leu8=
XM_011524854.1:c.24T>G	XP_011523156.1:p.Leu8=
XM_011524855.1:c.24T>G	XP_011523157.1:p.Leu8=
XM_011524856.1:c.24T>G	XP_011523158.1:p.Leu8=
XM_011524857.1:c.63T>G	XP_011523159.1:p.Leu21=
NM_001042492.3:c.63T>G MANE Select	NP_001035957.1:p.Leu21=
NM_001128147.3:c.63T>G	NP_001121619.1:p.Leu21=