Canonical Allele Identifier: CA399015677
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31343085T>G , CM000679.2:g.31343085T>G GRCh38
NC_000017.10:g.29670103T>G , CM000679.1:g.29670103T>G GRCh37
NC_000017.9:g.26694229T>G NCBI36
NG_009018.1:g.253109T>G , LRG_214:g.253109T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.7121T>G ENSP00000512431.1:p.Leu2374Arg
ENST00000684826.1:c.1703T>G ENSP00000509994.1:p.Leu568Arg
ENST00000687027.1:c.1295T>G ENSP00000508715.1:p.Leu432Arg
ENST00000687863.1:n.3784T>G
ENST00000689464.1:c.78T>G
ENST00000691014.1:c.7169T>G ENSP00000510595.1:p.Leu2390Arg
ENST00000693617.1:c.1703T>G ENSP00000510031.1:p.Leu568Arg
ENST00000358273.9:c.7139T>G MANE Select ENSP00000351015.4:p.Leu2380Arg
ENST00000356175.7:c.7076T>G ENSP00000348498.3:p.Leu2359Arg
ENST00000358273.8:c.7139T>G ENSP00000351015.4:p.Leu2380Arg
ENST00000456735.6:c.6074T>G ENSP00000389907.2:p.Leu2025Arg
ENST00000471572.6:c.522T>G
ENST00000579081.5:c.7275T>G ENSP00000462408.1:n.7275T>G
ENST00000581790.5:c.282T>G
ENST00000582892.1:n.381T>G
ENST00000584328.1:n.553T>G
NM_000267.3:c.7076T>G , LRG_214t1:c.7076T>G NP_000258.1:p.Leu2359Arg
NM_001042492.2:c.7139T>G , LRG_214t2:c.7139T>G NP_001035957.1:p.Leu2380Arg
XM_005257983.1:c.7139T>G XP_005258040.1:p.Leu2380Arg
XM_005257984.1:c.7076T>G XP_005258041.1:p.Leu2359Arg
XM_006721922.1:c.7169T>G XP_006721985.1:p.Leu2390Arg
XM_006721923.2:c.7130T>G XP_006721986.1:p.Leu2377Arg
XM_006721924.1:c.7169T>G XP_006721987.1:p.Leu2390Arg
XM_006721925.1:c.7106T>G XP_006721988.1:p.Leu2369Arg
XM_006721926.2:c.7169T>G XP_006721989.1:p.Leu2390Arg
XM_006721927.1:c.7169T>G XP_006721990.1:p.Leu2390Arg
XM_011524852.1:c.7166T>G XP_011523154.1:p.Leu2389Arg
XM_011524853.1:c.7130T>G XP_011523155.1:p.Leu2377Arg
XM_011524854.1:c.7130T>G XP_011523156.1:p.Leu2377Arg
XM_011524855.1:c.7130T>G XP_011523157.1:p.Leu2377Arg
XM_011524856.1:c.7130T>G XP_011523158.1:p.Leu2377Arg
XM_011524857.1:c.7169T>G XP_011523159.1:p.Leu2390Arg
NM_001042492.3:c.7139T>G MANE Select NP_001035957.1:p.Leu2380Arg