Canonical Allele Identifier: CA2255617539
Community Standard Title: NM_001042492.3(NF1):c.5699T= (p.Ile1900=)
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31330385T= , CM000679.2:g.31330385T= GRCh38
NC_000017.10:g.29657403T= , CM000679.1:g.29657403T= GRCh37
NC_000017.9:g.26681529T= NCBI36
NG_009018.1:g.240409T= , LRG_214:g.240409T=

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.5699T= MANE Select NP_001035957.1:p.Ile1900=
ENST00000358273.9:c.5699T= MANE Select ENSP00000351015.4:p.Ile1900=
NM_000267.3:c.5636T= , LRG_214t1:c.5636T= NP_000258.1:p.Ile1879=
NM_001042492.2:c.5699T= , LRG_214t2:c.5699T= NP_001035957.1:p.Ile1900=
ENST00000356175.7:c.5636T= ENSP00000348498.3:p.Ile1879=
ENST00000358273.8:c.5699T= ENSP00000351015.4:p.Ile1900=
ENST00000456735.6:c.4634T= ENSP00000389907.2:p.Ile1545=
ENST00000479536.2:c.57T=
ENST00000493220.5:n.4172T=
ENST00000579081.5:c.5835T= ENSP00000462408.1:n.5835T=
ENST00000581113.6:n.1016T=
ENST00000581113.7:c.1887T= ENSP00000492721.2:n.1887T=
ENST00000684826.1:c.263T= ENSP00000509994.1:p.Ile88=
ENST00000687027.1:c.-146T= ENSP00000508715.1:n.-146T=
ENST00000687863.1:n.2344T=
ENST00000691014.1:c.5729T= ENSP00000510595.1:p.Ile1910=
ENST00000693617.1:c.263T= ENSP00000510031.1:p.Ile88=
ENST00000696138.1:c.5681T= ENSP00000512431.1:p.Ile1894=
XM_005257983.1:c.5699T= XP_005258040.1:p.Ile1900=
XM_005257984.1:c.5636T= XP_005258041.1:p.Ile1879=
XM_006721922.1:c.5729T= XP_006721985.1:p.Ile1910=
XM_006721923.2:c.5690T= XP_006721986.1:p.Ile1897=
XM_006721924.1:c.5729T= XP_006721987.1:p.Ile1910=
XM_006721925.1:c.5666T= XP_006721988.1:p.Ile1889=
XM_006721926.2:c.5729T= XP_006721989.1:p.Ile1910=
XM_006721927.1:c.5729T= XP_006721990.1:p.Ile1910=
XM_011524852.1:c.5726T= XP_011523154.1:p.Ile1909=
XM_011524853.1:c.5690T= XP_011523155.1:p.Ile1897=
XM_011524854.1:c.5690T= XP_011523156.1:p.Ile1897=
XM_011524855.1:c.5690T= XP_011523157.1:p.Ile1897=
XM_011524856.1:c.5690T= XP_011523158.1:p.Ile1897=
XM_011524857.1:c.5729T= XP_011523159.1:p.Ile1910=