Canonical Allele Identifier: CA499233020
Gene: NF1 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

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