Canonical Allele Identifier: CA399010025

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31327815T>G , CM000679.2:g.31327815T>G	GRCh38
NC_000017.10:g.29654833T>G , CM000679.1:g.29654833T>G	GRCh37
NC_000017.9:g.26678959T>G	NCBI36
NG_009018.1:g.237839T>G , LRG_214:g.237839T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.5585T>G MANE Select	NP_001035957.1:p.Leu1862Ter
ENST00000358273.9:c.5585T>G MANE Select	ENSP00000351015.4:p.Leu1862Ter
NM_000267.3:c.5522T>G , LRG_214t1:c.5522T>G	NP_000258.1:p.Leu1841Ter
NM_001042492.2:c.5585T>G , LRG_214t2:c.5585T>G	NP_001035957.1:p.Leu1862Ter
ENST00000356175.7:c.5522T>G	ENSP00000348498.3:p.Leu1841Ter
ENST00000358273.8:c.5585T>G	ENSP00000351015.4:p.Leu1862Ter
ENST00000456735.6:c.4520T>G	ENSP00000389907.2:p.Leu1507Ter
ENST00000493220.5:n.4058T>G
ENST00000579081.5:c.5721T>G	ENSP00000462408.1:n.5721T>G
ENST00000581113.6:n.902T>G
ENST00000581113.7:c.1773T>G	ENSP00000492721.2:n.1773T>G
ENST00000684826.1:c.149T>G	ENSP00000509994.1:p.Leu50Ter
ENST00000687027.1:c.-236+1563T>G	ENSP00000508715.1:n.-236+1563T>G
ENST00000687863.1:n.2230T>G
ENST00000691014.1:c.5615T>G	ENSP00000510595.1:p.Leu1872Ter
ENST00000693617.1:c.149T>G	ENSP00000510031.1:p.Leu50Ter
ENST00000696138.1:c.5567T>G	ENSP00000512431.1:p.Leu1856Ter
XM_005257983.1:c.5585T>G	XP_005258040.1:p.Leu1862Ter
XM_005257984.1:c.5522T>G	XP_005258041.1:p.Leu1841Ter
XM_006721922.1:c.5615T>G	XP_006721985.1:p.Leu1872Ter
XM_006721923.2:c.5576T>G	XP_006721986.1:p.Leu1859Ter
XM_006721924.1:c.5615T>G	XP_006721987.1:p.Leu1872Ter
XM_006721925.1:c.5552T>G	XP_006721988.1:p.Leu1851Ter
XM_006721926.2:c.5615T>G	XP_006721989.1:p.Leu1872Ter
XM_006721927.1:c.5615T>G	XP_006721990.1:p.Leu1872Ter
XM_011524852.1:c.5612T>G	XP_011523154.1:p.Leu1871Ter
XM_011524853.1:c.5576T>G	XP_011523155.1:p.Leu1859Ter
XM_011524854.1:c.5576T>G	XP_011523156.1:p.Leu1859Ter
XM_011524855.1:c.5576T>G	XP_011523157.1:p.Leu1859Ter
XM_011524856.1:c.5576T>G	XP_011523158.1:p.Leu1859Ter
XM_011524857.1:c.5615T>G	XP_011523159.1:p.Leu1872Ter