Canonical Allele Identifier: CA399007253

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31325969G>A , CM000679.2:g.31325969G>A	GRCh38
NC_000017.10:g.29652987G>A , CM000679.1:g.29652987G>A	GRCh37
NC_000017.9:g.26677113G>A	NCBI36
NG_009018.1:g.235993G>A , LRG_214:g.235993G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.4985G>A MANE Select	NP_001035957.1:p.Trp1662Ter
ENST00000358273.9:c.4985G>A MANE Select	ENSP00000351015.4:p.Trp1662Ter
NM_000267.3:c.4922G>A , LRG_214t1:c.4922G>A	NP_000258.1:p.Trp1641Ter
NM_001042492.2:c.4985G>A , LRG_214t2:c.4985G>A	NP_001035957.1:p.Trp1662Ter
ENST00000356175.7:c.4922G>A	ENSP00000348498.3:p.Trp1641Ter
ENST00000358273.8:c.4985G>A	ENSP00000351015.4:p.Trp1662Ter
ENST00000456735.6:c.3920G>A	ENSP00000389907.2:p.Trp1307Ter
ENST00000493220.5:n.3458G>A
ENST00000579081.5:c.5121G>A	ENSP00000462408.1:n.5121G>A
ENST00000581113.6:n.302G>A
ENST00000581113.7:c.1173G>A	ENSP00000492721.2:n.1173G>A
ENST00000684826.1:c.-452G>A	ENSP00000509994.1:n.-452G>A
ENST00000687027.1:c.-519G>A	ENSP00000508715.1:n.-519G>A
ENST00000687863.1:n.1630G>A
ENST00000691014.1:c.5015G>A	ENSP00000510595.1:p.Trp1672Ter
ENST00000693617.1:c.-452G>A	ENSP00000510031.1:n.-452G>A
ENST00000696138.1:c.4967G>A	ENSP00000512431.1:p.Trp1656Ter
XM_005257983.1:c.4985G>A	XP_005258040.1:p.Trp1662Ter
XM_005257984.1:c.4922G>A	XP_005258041.1:p.Trp1641Ter
XM_006721922.1:c.5015G>A	XP_006721985.1:p.Trp1672Ter
XM_006721923.2:c.4976G>A	XP_006721986.1:p.Trp1659Ter
XM_006721924.1:c.5015G>A	XP_006721987.1:p.Trp1672Ter
XM_006721925.1:c.4952G>A	XP_006721988.1:p.Trp1651Ter
XM_006721926.2:c.5015G>A	XP_006721989.1:p.Trp1672Ter
XM_006721927.1:c.5015G>A	XP_006721990.1:p.Trp1672Ter
XM_011524852.1:c.5012G>A	XP_011523154.1:p.Trp1671Ter
XM_011524853.1:c.4976G>A	XP_011523155.1:p.Trp1659Ter
XM_011524854.1:c.4976G>A	XP_011523156.1:p.Trp1659Ter
XM_011524855.1:c.4976G>A	XP_011523157.1:p.Trp1659Ter
XM_011524856.1:c.4976G>A	XP_011523158.1:p.Trp1659Ter
XM_011524857.1:c.5015G>A	XP_011523159.1:p.Trp1672Ter