Canonical Allele Identifier: CA2255619572
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31334867T= , CM000679.2:g.31334867T= GRCh38
NC_000017.10:g.29661885T= , CM000679.1:g.29661885T= GRCh37
NC_000017.9:g.26686011T= NCBI36
NG_009018.1:g.244891T= , LRG_214:g.244891T=

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.5842T= MANE Select NP_001035957.1:p.Tyr1948=
ENST00000358273.9:c.5842T= MANE Select ENSP00000351015.4:p.Tyr1948=
NM_000267.3:c.5779T= , LRG_214t1:c.5779T= NP_000258.1:p.Tyr1927=
NM_001042492.2:c.5842T= , LRG_214t2:c.5842T= NP_001035957.1:p.Tyr1948=
ENST00000356175.7:c.5779T= ENSP00000348498.3:p.Tyr1927=
ENST00000358273.8:c.5842T= ENSP00000351015.4:p.Tyr1948=
ENST00000456735.6:c.4777T= ENSP00000389907.2:p.Tyr1593=
ENST00000479536.2:c.267T=
ENST00000579081.5:c.5978T= ENSP00000462408.1:n.5978T=
ENST00000581113.6:n.1159T=
ENST00000581113.7:c.2030T= ENSP00000492721.2:n.2030T=
ENST00000684826.1:c.406T= ENSP00000509994.1:p.Tyr136=
ENST00000687027.1:c.-3T= ENSP00000508715.1:n.-3T=
ENST00000687863.1:n.2487T=
ENST00000691014.1:c.5872T= ENSP00000510595.1:p.Tyr1958=
ENST00000693617.1:c.406T= ENSP00000510031.1:p.Tyr136=
ENST00000696138.1:c.5824T= ENSP00000512431.1:p.Tyr1942=
XM_005257983.1:c.5842T= XP_005258040.1:p.Tyr1948=
XM_005257984.1:c.5779T= XP_005258041.1:p.Tyr1927=
XM_006721922.1:c.5872T= XP_006721985.1:p.Tyr1958=
XM_006721923.2:c.5833T= XP_006721986.1:p.Tyr1945=
XM_006721924.1:c.5872T= XP_006721987.1:p.Tyr1958=
XM_006721925.1:c.5809T= XP_006721988.1:p.Tyr1937=
XM_006721926.2:c.5872T= XP_006721989.1:p.Tyr1958=
XM_006721927.1:c.5872T= XP_006721990.1:p.Tyr1958=
XM_011524852.1:c.5869T= XP_011523154.1:p.Tyr1957=
XM_011524853.1:c.5833T= XP_011523155.1:p.Tyr1945=
XM_011524854.1:c.5833T= XP_011523156.1:p.Tyr1945=
XM_011524855.1:c.5833T= XP_011523157.1:p.Tyr1945=
XM_011524856.1:c.5833T= XP_011523158.1:p.Tyr1945=
XM_011524857.1:c.5872T= XP_011523159.1:p.Tyr1958=