Canonical Allele Identifier: CA8487117

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31325871G>A , CM000679.2:g.31325871G>A	GRCh38
NC_000017.10:g.29652889G>A , CM000679.1:g.29652889G>A	GRCh37
NC_000017.9:g.26677015G>A	NCBI36
NG_009018.1:g.235895G>A , LRG_214:g.235895G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.4887G>A MANE Select	NP_001035957.1:p.Leu1629=
ENST00000358273.9:c.4887G>A MANE Select	ENSP00000351015.4:p.Leu1629=
NM_000267.3:c.4824G>A , LRG_214t1:c.4824G>A	NP_000258.1:p.Leu1608=
NM_001042492.2:c.4887G>A , LRG_214t2:c.4887G>A	NP_001035957.1:p.Leu1629=
ENST00000356175.7:c.4824G>A	ENSP00000348498.3:p.Leu1608=
ENST00000358273.8:c.4887G>A	ENSP00000351015.4:p.Leu1629=
ENST00000456735.6:c.3822G>A	ENSP00000389907.2:p.Leu1274=
ENST00000493220.5:n.3360G>A
ENST00000579081.5:c.5023G>A	ENSP00000462408.1:n.5023G>A
ENST00000581113.6:n.204G>A
ENST00000581113.7:c.1075G>A	ENSP00000492721.2:n.1075G>A
ENST00000684826.1:c.-550G>A	ENSP00000509994.1:n.-550G>A
ENST00000687027.1:c.-617G>A	ENSP00000508715.1:n.-617G>A
ENST00000687863.1:n.1532G>A
ENST00000691014.1:c.4917G>A	ENSP00000510595.1:p.Leu1639=
ENST00000693617.1:c.-550G>A	ENSP00000510031.1:n.-550G>A
ENST00000696138.1:c.4869G>A	ENSP00000512431.1:p.Leu1623=
XM_005257983.1:c.4887G>A	XP_005258040.1:p.Leu1629=
XM_005257984.1:c.4824G>A	XP_005258041.1:p.Leu1608=
XM_006721922.1:c.4917G>A	XP_006721985.1:p.Leu1639=
XM_006721923.2:c.4878G>A	XP_006721986.1:p.Leu1626=
XM_006721924.1:c.4917G>A	XP_006721987.1:p.Leu1639=
XM_006721925.1:c.4854G>A	XP_006721988.1:p.Leu1618=
XM_006721926.2:c.4917G>A	XP_006721989.1:p.Leu1639=
XM_006721927.1:c.4917G>A	XP_006721990.1:p.Leu1639=
XM_011524852.1:c.4914G>A	XP_011523154.1:p.Leu1638=
XM_011524853.1:c.4878G>A	XP_011523155.1:p.Leu1626=
XM_011524854.1:c.4878G>A	XP_011523156.1:p.Leu1626=
XM_011524855.1:c.4878G>A	XP_011523157.1:p.Leu1626=
XM_011524856.1:c.4878G>A	XP_011523158.1:p.Leu1626=
XM_011524857.1:c.4917G>A	XP_011523159.1:p.Leu1639=