Canonical Allele Identifier: CA399010594
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31334858T>A , CM000679.2:g.31334858T>A GRCh38
NC_000017.10:g.29661876T>A , CM000679.1:g.29661876T>A GRCh37
NC_000017.9:g.26686002T>A NCBI36
NG_009018.1:g.244882T>A , LRG_214:g.244882T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.2021T>A ENSP00000492721.2:n.2021T>A
ENST00000696138.1:c.5815T>A ENSP00000512431.1:p.Cys1939Ser
ENST00000684826.1:c.397T>A ENSP00000509994.1:p.Cys133Ser
ENST00000687027.1:c.-12T>A ENSP00000508715.1:n.-12T>A
ENST00000687863.1:n.2478T>A
ENST00000691014.1:c.5863T>A ENSP00000510595.1:p.Cys1955Ser
ENST00000693617.1:c.397T>A ENSP00000510031.1:p.Cys133Ser
ENST00000358273.9:c.5833T>A MANE Select ENSP00000351015.4:p.Cys1945Ser
ENST00000356175.7:c.5770T>A ENSP00000348498.3:p.Cys1924Ser
ENST00000358273.8:c.5833T>A ENSP00000351015.4:p.Cys1945Ser
ENST00000456735.6:c.4768T>A ENSP00000389907.2:p.Cys1590Ser
ENST00000479536.2:c.258T>A
ENST00000579081.5:c.5969T>A ENSP00000462408.1:n.5969T>A
ENST00000581113.6:n.1150T>A
NM_000267.3:c.5770T>A , LRG_214t1:c.5770T>A NP_000258.1:p.Cys1924Ser
NM_001042492.2:c.5833T>A , LRG_214t2:c.5833T>A NP_001035957.1:p.Cys1945Ser
XM_005257983.1:c.5833T>A XP_005258040.1:p.Cys1945Ser
XM_005257984.1:c.5770T>A XP_005258041.1:p.Cys1924Ser
XM_006721922.1:c.5863T>A XP_006721985.1:p.Cys1955Ser
XM_006721923.2:c.5824T>A XP_006721986.1:p.Cys1942Ser
XM_006721924.1:c.5863T>A XP_006721987.1:p.Cys1955Ser
XM_006721925.1:c.5800T>A XP_006721988.1:p.Cys1934Ser
XM_006721926.2:c.5863T>A XP_006721989.1:p.Cys1955Ser
XM_006721927.1:c.5863T>A XP_006721990.1:p.Cys1955Ser
XM_011524852.1:c.5860T>A XP_011523154.1:p.Cys1954Ser
XM_011524853.1:c.5824T>A XP_011523155.1:p.Cys1942Ser
XM_011524854.1:c.5824T>A XP_011523156.1:p.Cys1942Ser
XM_011524855.1:c.5824T>A XP_011523157.1:p.Cys1942Ser
XM_011524856.1:c.5824T>A XP_011523158.1:p.Cys1942Ser
XM_011524857.1:c.5863T>A XP_011523159.1:p.Cys1955Ser
NM_001042492.3:c.5833T>A MANE Select NP_001035957.1:p.Cys1945Ser