Canonical Allele Identifier: CA398986410

Gene: NF1

Linked Data

• dbSNP Id: rs1597716461
• MyVariant Identifiers: chr17:g.29556979T>A (hg19) ; chr17:g.31229961T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229961T>A , CM000679.2:g.31229961T>A	GRCh38
NC_000017.10:g.29556979T>A , CM000679.1:g.29556979T>A	GRCh37
NC_000017.9:g.26581105T>A	NCBI36
NG_009018.1:g.139985T>A , LRG_214:g.139985T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3022T>A	ENSP00000512431.1:p.Leu1008Ile
ENST00000696139.1:c.322T>A	ENSP00000512432.1:p.Leu108Ile
ENST00000691014.1:c.3007T>A	ENSP00000510595.1:p.Leu1003Ile
ENST00000358273.9:c.2977T>A MANE Select	ENSP00000351015.4:p.Leu993Ile
ENST00000356175.7:c.2977T>A	ENSP00000348498.3:p.Leu993Ile
ENST00000358273.8:c.2977T>A	ENSP00000351015.4:p.Leu993Ile
ENST00000456735.6:c.1975T>A	ENSP00000389907.2:p.Leu659Ile
ENST00000493220.5:n.1513T>A
ENST00000495910.6:c.2752T>A
ENST00000579081.5:c.3079T>A	ENSP00000462408.1:p.Leu1027Ile
NM_000267.3:c.2977T>A , LRG_214t1:c.2977T>A	NP_000258.1:p.Leu993Ile
NM_001042492.2:c.2977T>A , LRG_214t2:c.2977T>A	NP_001035957.1:p.Leu993Ile
XM_005257983.1:c.2977T>A	XP_005258040.1:p.Leu993Ile
XM_005257984.1:c.2977T>A	XP_005258041.1:p.Leu993Ile
XM_006721922.1:c.3007T>A	XP_006721985.1:p.Leu1003Ile
XM_006721923.2:c.2968T>A	XP_006721986.1:p.Leu990Ile
XM_006721924.1:c.3007T>A	XP_006721987.1:p.Leu1003Ile
XM_006721925.1:c.3007T>A	XP_006721988.1:p.Leu1003Ile
XM_006721926.2:c.3007T>A	XP_006721989.1:p.Leu1003Ile
XM_006721927.1:c.3007T>A	XP_006721990.1:p.Leu1003Ile
XM_006721928.2:c.3007T>A	XP_006721991.1:p.Leu1003Ile
XM_011524852.1:c.3004T>A	XP_011523154.1:p.Leu1002Ile
XM_011524853.1:c.2968T>A	XP_011523155.1:p.Leu990Ile
XM_011524854.1:c.2968T>A	XP_011523156.1:p.Leu990Ile
XM_011524855.1:c.2968T>A	XP_011523157.1:p.Leu990Ile
XM_011524856.1:c.2968T>A	XP_011523158.1:p.Leu990Ile
XM_011524857.1:c.3007T>A	XP_011523159.1:p.Leu1003Ile
NM_001042492.3:c.2977T>A MANE Select	NP_001035957.1:p.Leu993Ile