Canonical Allele Identifier: CA2255615505
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31325997C= , CM000679.2:g.31325997C= GRCh38
NC_000017.10:g.29653015C= , CM000679.1:g.29653015C= GRCh37
NC_000017.9:g.26677141C= NCBI36
NG_009018.1:g.236021C= , LRG_214:g.236021C=

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.5013C= MANE Select NP_001035957.1:p.Tyr1671=
ENST00000358273.9:c.5013C= MANE Select ENSP00000351015.4:p.Tyr1671=
NM_000267.3:c.4950C= , LRG_214t1:c.4950C= NP_000258.1:p.Tyr1650=
NM_001042492.2:c.5013C= , LRG_214t2:c.5013C= NP_001035957.1:p.Tyr1671=
ENST00000356175.7:c.4950C= ENSP00000348498.3:p.Tyr1650=
ENST00000358273.8:c.5013C= ENSP00000351015.4:p.Tyr1671=
ENST00000456735.6:c.3948C= ENSP00000389907.2:p.Tyr1316=
ENST00000493220.5:n.3486C=
ENST00000579081.5:c.5149C= ENSP00000462408.1:n.5149C=
ENST00000581113.6:n.330C=
ENST00000581113.7:c.1201C= ENSP00000492721.2:n.1201C=
ENST00000684826.1:c.-424C= ENSP00000509994.1:n.-424C=
ENST00000687027.1:c.-491C= ENSP00000508715.1:n.-491C=
ENST00000687863.1:n.1658C=
ENST00000691014.1:c.5043C= ENSP00000510595.1:p.Tyr1681=
ENST00000693617.1:c.-424C= ENSP00000510031.1:n.-424C=
ENST00000696138.1:c.4995C= ENSP00000512431.1:p.Tyr1665=
XM_005257983.1:c.5013C= XP_005258040.1:p.Tyr1671=
XM_005257984.1:c.4950C= XP_005258041.1:p.Tyr1650=
XM_006721922.1:c.5043C= XP_006721985.1:p.Tyr1681=
XM_006721923.2:c.5004C= XP_006721986.1:p.Tyr1668=
XM_006721924.1:c.5043C= XP_006721987.1:p.Tyr1681=
XM_006721925.1:c.4980C= XP_006721988.1:p.Tyr1660=
XM_006721926.2:c.5043C= XP_006721989.1:p.Tyr1681=
XM_006721927.1:c.5043C= XP_006721990.1:p.Tyr1681=
XM_011524852.1:c.5040C= XP_011523154.1:p.Tyr1680=
XM_011524853.1:c.5004C= XP_011523155.1:p.Tyr1668=
XM_011524854.1:c.5004C= XP_011523156.1:p.Tyr1668=
XM_011524855.1:c.5004C= XP_011523157.1:p.Tyr1668=
XM_011524856.1:c.5004C= XP_011523158.1:p.Tyr1668=
XM_011524857.1:c.5043C= XP_011523159.1:p.Tyr1681=