Canonical Allele Identifier: CA399010599

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29661877G>T (hg19) ; chr17:g.31334859G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31334859G>T , CM000679.2:g.31334859G>T	GRCh38
NC_000017.10:g.29661877G>T , CM000679.1:g.29661877G>T	GRCh37
NC_000017.9:g.26686003G>T	NCBI36
NG_009018.1:g.244883G>T , LRG_214:g.244883G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.2022G>T	ENSP00000492721.2:n.2022G>T
ENST00000696138.1:c.5816G>T	ENSP00000512431.1:p.Cys1939Phe
ENST00000684826.1:c.398G>T	ENSP00000509994.1:p.Cys133Phe
ENST00000687027.1:c.-11G>T	ENSP00000508715.1:n.-11G>T
ENST00000687863.1:n.2479G>T
ENST00000691014.1:c.5864G>T	ENSP00000510595.1:p.Cys1955Phe
ENST00000693617.1:c.398G>T	ENSP00000510031.1:p.Cys133Phe
ENST00000358273.9:c.5834G>T MANE Select	ENSP00000351015.4:p.Cys1945Phe
ENST00000356175.7:c.5771G>T	ENSP00000348498.3:p.Cys1924Phe
ENST00000358273.8:c.5834G>T	ENSP00000351015.4:p.Cys1945Phe
ENST00000456735.6:c.4769G>T	ENSP00000389907.2:p.Cys1590Phe
ENST00000479536.2:c.259G>T
ENST00000579081.5:c.5970G>T	ENSP00000462408.1:n.5970G>T
ENST00000581113.6:n.1151G>T
NM_000267.3:c.5771G>T , LRG_214t1:c.5771G>T	NP_000258.1:p.Cys1924Phe
NM_001042492.2:c.5834G>T , LRG_214t2:c.5834G>T	NP_001035957.1:p.Cys1945Phe
XM_005257983.1:c.5834G>T	XP_005258040.1:p.Cys1945Phe
XM_005257984.1:c.5771G>T	XP_005258041.1:p.Cys1924Phe
XM_006721922.1:c.5864G>T	XP_006721985.1:p.Cys1955Phe
XM_006721923.2:c.5825G>T	XP_006721986.1:p.Cys1942Phe
XM_006721924.1:c.5864G>T	XP_006721987.1:p.Cys1955Phe
XM_006721925.1:c.5801G>T	XP_006721988.1:p.Cys1934Phe
XM_006721926.2:c.5864G>T	XP_006721989.1:p.Cys1955Phe
XM_006721927.1:c.5864G>T	XP_006721990.1:p.Cys1955Phe
XM_011524852.1:c.5861G>T	XP_011523154.1:p.Cys1954Phe
XM_011524853.1:c.5825G>T	XP_011523155.1:p.Cys1942Phe
XM_011524854.1:c.5825G>T	XP_011523156.1:p.Cys1942Phe
XM_011524855.1:c.5825G>T	XP_011523157.1:p.Cys1942Phe
XM_011524856.1:c.5825G>T	XP_011523158.1:p.Cys1942Phe
XM_011524857.1:c.5864G>T	XP_011523159.1:p.Cys1955Phe
NM_001042492.3:c.5834G>T MANE Select	NP_001035957.1:p.Cys1945Phe