Canonical Allele Identifier: CA399009152

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31327557C>G , CM000679.2:g.31327557C>G	GRCh38
NC_000017.10:g.29654575C>G , CM000679.1:g.29654575C>G	GRCh37
NC_000017.9:g.26678701C>G	NCBI36
NG_009018.1:g.237581C>G , LRG_214:g.237581C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.5327C>G MANE Select	NP_001035957.1:p.Ser1776Ter
ENST00000358273.9:c.5327C>G MANE Select	ENSP00000351015.4:p.Ser1776Ter
NM_000267.3:c.5264C>G , LRG_214t1:c.5264C>G	NP_000258.1:p.Ser1755Ter
NM_001042492.2:c.5327C>G , LRG_214t2:c.5327C>G	NP_001035957.1:p.Ser1776Ter
ENST00000356175.7:c.5264C>G	ENSP00000348498.3:p.Ser1755Ter
ENST00000358273.8:c.5327C>G	ENSP00000351015.4:p.Ser1776Ter
ENST00000456735.6:c.4262C>G	ENSP00000389907.2:p.Ser1421Ter
ENST00000493220.5:n.3800C>G
ENST00000579081.5:c.5463C>G	ENSP00000462408.1:n.5463C>G
ENST00000581113.6:n.644C>G
ENST00000581113.7:c.1515C>G	ENSP00000492721.2:n.1515C>G
ENST00000684826.1:c.-110C>G	ENSP00000509994.1:n.-110C>G
ENST00000687027.1:c.-236+1305C>G	ENSP00000508715.1:n.-236+1305C>G
ENST00000687863.1:n.1972C>G
ENST00000691014.1:c.5357C>G	ENSP00000510595.1:p.Ser1786Ter
ENST00000693617.1:c.-110C>G	ENSP00000510031.1:n.-110C>G
ENST00000696138.1:c.5309C>G	ENSP00000512431.1:p.Ser1770Ter
XM_005257983.1:c.5327C>G	XP_005258040.1:p.Ser1776Ter
XM_005257984.1:c.5264C>G	XP_005258041.1:p.Ser1755Ter
XM_006721922.1:c.5357C>G	XP_006721985.1:p.Ser1786Ter
XM_006721923.2:c.5318C>G	XP_006721986.1:p.Ser1773Ter
XM_006721924.1:c.5357C>G	XP_006721987.1:p.Ser1786Ter
XM_006721925.1:c.5294C>G	XP_006721988.1:p.Ser1765Ter
XM_006721926.2:c.5357C>G	XP_006721989.1:p.Ser1786Ter
XM_006721927.1:c.5357C>G	XP_006721990.1:p.Ser1786Ter
XM_011524852.1:c.5354C>G	XP_011523154.1:p.Ser1785Ter
XM_011524853.1:c.5318C>G	XP_011523155.1:p.Ser1773Ter
XM_011524854.1:c.5318C>G	XP_011523156.1:p.Ser1773Ter
XM_011524855.1:c.5318C>G	XP_011523157.1:p.Ser1773Ter
XM_011524856.1:c.5318C>G	XP_011523158.1:p.Ser1773Ter
XM_011524857.1:c.5357C>G	XP_011523159.1:p.Ser1786Ter