Canonical Allele Identifier: CA399001541
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31214509T>G , CM000679.2:g.31214509T>G GRCh38
NC_000017.10:g.29541527T>G , CM000679.1:g.29541527T>G GRCh37
NC_000017.9:g.26565653T>G NCBI36
NG_009018.1:g.124533T>G , LRG_214:g.124533T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.1496T>G ENSP00000512431.1:p.Leu499Arg
ENST00000686189.1:c.896T>G ENSP00000509682.1:p.Leu299Arg
ENST00000691014.1:c.1481T>G ENSP00000510595.1:p.Leu494Arg
ENST00000358273.9:c.1451T>G MANE Select ENSP00000351015.4:p.Leu484Arg
ENST00000356175.7:c.1451T>G ENSP00000348498.3:p.Leu484Arg
ENST00000358273.8:c.1451T>G ENSP00000351015.4:p.Leu484Arg
ENST00000431387.8:c.1451T>G ENSP00000412921.4:p.Leu484Arg
ENST00000456735.6:c.449T>G ENSP00000389907.2:p.Leu150Arg
ENST00000487476.5:n.1834T>G
ENST00000495910.6:c.1226T>G
ENST00000579081.5:c.1553T>G ENSP00000462408.1:p.Leu518Arg
NM_000267.3:c.1451T>G , LRG_214t1:c.1451T>G NP_000258.1:p.Leu484Arg
NM_001042492.2:c.1451T>G , LRG_214t2:c.1451T>G NP_001035957.1:p.Leu484Arg
NM_001128147.2:c.1451T>G NP_001121619.1:p.Leu484Arg
XM_005257983.1:c.1451T>G XP_005258040.1:p.Leu484Arg
XM_005257984.1:c.1451T>G XP_005258041.1:p.Leu484Arg
XM_006721922.1:c.1481T>G XP_006721985.1:p.Leu494Arg
XM_006721923.2:c.1442T>G XP_006721986.1:p.Leu481Arg
XM_006721924.1:c.1481T>G XP_006721987.1:p.Leu494Arg
XM_006721925.1:c.1481T>G XP_006721988.1:p.Leu494Arg
XM_006721926.2:c.1481T>G XP_006721989.1:p.Leu494Arg
XM_006721927.1:c.1481T>G XP_006721990.1:p.Leu494Arg
XM_006721928.2:c.1481T>G XP_006721991.1:p.Leu494Arg
XM_011524852.1:c.1481T>G XP_011523154.1:p.Leu494Arg
XM_011524853.1:c.1442T>G XP_011523155.1:p.Leu481Arg
XM_011524854.1:c.1442T>G XP_011523156.1:p.Leu481Arg
XM_011524855.1:c.1442T>G XP_011523157.1:p.Leu481Arg
XM_011524856.1:c.1442T>G XP_011523158.1:p.Leu481Arg
XM_011524857.1:c.1481T>G XP_011523159.1:p.Leu494Arg
NM_001042492.3:c.1451T>G MANE Select NP_001035957.1:p.Leu484Arg
NM_001128147.3:c.1451T>G NP_001121619.1:p.Leu484Arg