Canonical Allele Identifier: CA2255617582

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330457T= , CM000679.2:g.31330457T=	GRCh38
NC_000017.10:g.29657475T= , CM000679.1:g.29657475T=	GRCh37
NC_000017.9:g.26681601T=	NCBI36
NG_009018.1:g.240481T= , LRG_214:g.240481T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1959T=	ENSP00000492721.2:n.1959T=
ENST00000696138.1:c.5753T=	ENSP00000512431.1:p.Leu1918=
ENST00000684826.1:c.335T=	ENSP00000509994.1:p.Leu112=
ENST00000687027.1:c.-74T=	ENSP00000508715.1:n.-74T=
ENST00000687863.1:n.2416T=
ENST00000691014.1:c.5801T=	ENSP00000510595.1:p.Leu1934=
ENST00000693617.1:c.335T=	ENSP00000510031.1:p.Leu112=
ENST00000358273.9:c.5771T= MANE Select	ENSP00000351015.4:p.Leu1924=
ENST00000356175.7:c.5708T=	ENSP00000348498.3:p.Leu1903=
ENST00000358273.8:c.5771T=	ENSP00000351015.4:p.Leu1924=
ENST00000456735.6:c.4706T=	ENSP00000389907.2:p.Leu1569=
ENST00000479536.2:c.129T=
ENST00000493220.5:n.4244T=
ENST00000579081.5:c.5907T=	ENSP00000462408.1:n.5907T=
ENST00000581113.6:n.1088T=
NM_000267.3:c.5708T= , LRG_214t1:c.5708T=	NP_000258.1:p.Leu1903=
NM_001042492.2:c.5771T= , LRG_214t2:c.5771T=	NP_001035957.1:p.Leu1924=
XM_005257983.1:c.5771T=	XP_005258040.1:p.Leu1924=
XM_005257984.1:c.5708T=	XP_005258041.1:p.Leu1903=
XM_006721922.1:c.5801T=	XP_006721985.1:p.Leu1934=
XM_006721923.2:c.5762T=	XP_006721986.1:p.Leu1921=
XM_006721924.1:c.5801T=	XP_006721987.1:p.Leu1934=
XM_006721925.1:c.5738T=	XP_006721988.1:p.Leu1913=
XM_006721926.2:c.5801T=	XP_006721989.1:p.Leu1934=
XM_006721927.1:c.5801T=	XP_006721990.1:p.Leu1934=
XM_011524852.1:c.5798T=	XP_011523154.1:p.Leu1933=
XM_011524853.1:c.5762T=	XP_011523155.1:p.Leu1921=
XM_011524854.1:c.5762T=	XP_011523156.1:p.Leu1921=
XM_011524855.1:c.5762T=	XP_011523157.1:p.Leu1921=
XM_011524856.1:c.5762T=	XP_011523158.1:p.Leu1921=
XM_011524857.1:c.5801T=	XP_011523159.1:p.Leu1934=
NM_001042492.3:c.5771T= MANE Select	NP_001035957.1:p.Leu1924=