Canonical Allele Identifier: CA2255603949
Community Standard Title: NM_001042492.3(NF1):c.7015G= (p.Glu2339=)
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31340598G= , CM000679.2:g.31340598G= GRCh38
NC_000017.10:g.29667616G= , CM000679.1:g.29667616G= GRCh37
NC_000017.9:g.26691742G= NCBI36
NG_009018.1:g.250622G= , LRG_214:g.250622G=

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.7015G= MANE Select NP_001035957.1:p.Glu2339=
ENST00000358273.9:c.7015G= MANE Select ENSP00000351015.4:p.Glu2339=
NM_000267.3:c.6952G= , LRG_214t1:c.6952G= NP_000258.1:p.Glu2318=
NM_001042492.2:c.7015G= , LRG_214t2:c.7015G= NP_001035957.1:p.Glu2339=
ENST00000356175.7:c.6952G= ENSP00000348498.3:p.Glu2318=
ENST00000358273.8:c.7015G= ENSP00000351015.4:p.Glu2339=
ENST00000456735.6:c.5950G= ENSP00000389907.2:p.Glu1984=
ENST00000471572.6:c.398G=
ENST00000579081.5:c.7151G= ENSP00000462408.1:n.7151G=
ENST00000581790.5:c.158G=
ENST00000582892.1:n.304+15G=
ENST00000584328.1:n.429G=
ENST00000684826.1:c.1579G= ENSP00000509994.1:p.Glu527=
ENST00000684998.1:n.4536G=
ENST00000687027.1:c.1171G= ENSP00000508715.1:p.Glu391=
ENST00000687863.1:n.3660G=
ENST00000691014.1:c.7045G= ENSP00000510595.1:p.Glu2349=
ENST00000693617.1:c.1579G= ENSP00000510031.1:p.Glu527=
ENST00000696138.1:c.6997G= ENSP00000512431.1:p.Glu2333=
XM_005257983.1:c.7015G= XP_005258040.1:p.Glu2339=
XM_005257984.1:c.6952G= XP_005258041.1:p.Glu2318=
XM_006721922.1:c.7045G= XP_006721985.1:p.Glu2349=
XM_006721923.2:c.7006G= XP_006721986.1:p.Glu2336=
XM_006721924.1:c.7045G= XP_006721987.1:p.Glu2349=
XM_006721925.1:c.6982G= XP_006721988.1:p.Glu2328=
XM_006721926.2:c.7045G= XP_006721989.1:p.Glu2349=
XM_006721927.1:c.7045G= XP_006721990.1:p.Glu2349=
XM_011524852.1:c.7042G= XP_011523154.1:p.Glu2348=
XM_011524853.1:c.7006G= XP_011523155.1:p.Glu2336=
XM_011524854.1:c.7006G= XP_011523156.1:p.Glu2336=
XM_011524855.1:c.7006G= XP_011523157.1:p.Glu2336=
XM_011524856.1:c.7006G= XP_011523158.1:p.Glu2336=
XM_011524857.1:c.7045G= XP_011523159.1:p.Glu2349=