Canonical Allele Identifier: CA2255612114

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357342T= , CM000679.2:g.31357342T=	GRCh38
NC_000017.10:g.29684360T= , CM000679.1:g.29684360T=	GRCh37
NC_000017.9:g.26708486T=	NCBI36
NG_009018.1:g.267366T= , LRG_214:g.267366T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7925T=	ENSP00000512431.1:p.Val2642=
ENST00000684826.1:c.2507T=	ENSP00000509994.1:p.Val836=
ENST00000687027.1:c.2099T=	ENSP00000508715.1:p.Val700=
ENST00000687863.1:n.4588T=
ENST00000689464.1:c.993T=
ENST00000691014.1:c.7973T=	ENSP00000510595.1:p.Val2658=
ENST00000693617.1:c.2507T=	ENSP00000510031.1:p.Val836=
ENST00000358273.9:c.7943T= MANE Select	ENSP00000351015.4:p.Val2648=
ENST00000356175.7:c.7880T=	ENSP00000348498.3:p.Val2627=
ENST00000358273.8:c.7943T=	ENSP00000351015.4:p.Val2648=
ENST00000456735.6:c.6878T=	ENSP00000389907.2:p.Val2293=
ENST00000471572.6:c.1326T=
ENST00000577967.1:n.1539T=
ENST00000579081.5:c.8079T=	ENSP00000462408.1:n.8079T=
ENST00000581790.5:c.928T=
NM_000267.3:c.7880T= , LRG_214t1:c.7880T=	NP_000258.1:p.Val2627=
NM_001042492.2:c.7943T= , LRG_214t2:c.7943T=	NP_001035957.1:p.Val2648=
XM_005257983.1:c.7943T=	XP_005258040.1:p.Val2648=
XM_005257984.1:c.7880T=	XP_005258041.1:p.Val2627=
XM_006721922.1:c.7973T=	XP_006721985.1:p.Val2658=
XM_006721923.2:c.7934T=	XP_006721986.1:p.Val2645=
XM_006721924.1:c.7973T=	XP_006721987.1:p.Val2658=
XM_006721925.1:c.7910T=	XP_006721988.1:p.Val2637=
XM_006721926.2:c.7973T=	XP_006721989.1:p.Val2658=
XM_006721927.1:c.7973T=	XP_006721990.1:p.Val2658=
XM_011524852.1:c.7970T=	XP_011523154.1:p.Val2657=
XM_011524853.1:c.7934T=	XP_011523155.1:p.Val2645=
XM_011524854.1:c.7934T=	XP_011523156.1:p.Val2645=
XM_011524855.1:c.7934T=	XP_011523157.1:p.Val2645=
XM_011524856.1:c.7934T=	XP_011523158.1:p.Val2645=
XM_011524857.1:c.7850T=	XP_011523159.1:p.Val2617=
NM_001042492.3:c.7943T= MANE Select	NP_001035957.1:p.Val2648=