Canonical Allele Identifier: CA399009622
Community Standard Title: NM_001042492.3(NF1):c.5501C>G (p.Ser1834Ter)
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31327731C>G , CM000679.2:g.31327731C>G GRCh38
NC_000017.10:g.29654749C>G , CM000679.1:g.29654749C>G GRCh37
NC_000017.9:g.26678875C>G NCBI36
NG_009018.1:g.237755C>G , LRG_214:g.237755C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.5501C>G MANE Select NP_001035957.1:p.Ser1834Ter
ENST00000358273.9:c.5501C>G MANE Select ENSP00000351015.4:p.Ser1834Ter
NM_000267.3:c.5438C>G , LRG_214t1:c.5438C>G NP_000258.1:p.Ser1813Ter
NM_001042492.2:c.5501C>G , LRG_214t2:c.5501C>G NP_001035957.1:p.Ser1834Ter
ENST00000356175.7:c.5438C>G ENSP00000348498.3:p.Ser1813Ter
ENST00000358273.8:c.5501C>G ENSP00000351015.4:p.Ser1834Ter
ENST00000456735.6:c.4436C>G ENSP00000389907.2:p.Ser1479Ter
ENST00000493220.5:n.3974C>G
ENST00000579081.5:c.5637C>G ENSP00000462408.1:n.5637C>G
ENST00000581113.6:n.818C>G
ENST00000581113.7:c.1689C>G ENSP00000492721.2:n.1689C>G
ENST00000684826.1:c.65C>G ENSP00000509994.1:p.Ser22Ter
ENST00000687027.1:c.-236+1479C>G ENSP00000508715.1:n.-236+1479C>G
ENST00000687863.1:n.2146C>G
ENST00000691014.1:c.5531C>G ENSP00000510595.1:p.Ser1844Ter
ENST00000693617.1:c.65C>G ENSP00000510031.1:p.Ser22Ter
ENST00000696138.1:c.5483C>G ENSP00000512431.1:p.Ser1828Ter
XM_005257983.1:c.5501C>G XP_005258040.1:p.Ser1834Ter
XM_005257984.1:c.5438C>G XP_005258041.1:p.Ser1813Ter
XM_006721922.1:c.5531C>G XP_006721985.1:p.Ser1844Ter
XM_006721923.2:c.5492C>G XP_006721986.1:p.Ser1831Ter
XM_006721924.1:c.5531C>G XP_006721987.1:p.Ser1844Ter
XM_006721925.1:c.5468C>G XP_006721988.1:p.Ser1823Ter
XM_006721926.2:c.5531C>G XP_006721989.1:p.Ser1844Ter
XM_006721927.1:c.5531C>G XP_006721990.1:p.Ser1844Ter
XM_011524852.1:c.5528C>G XP_011523154.1:p.Ser1843Ter
XM_011524853.1:c.5492C>G XP_011523155.1:p.Ser1831Ter
XM_011524854.1:c.5492C>G XP_011523156.1:p.Ser1831Ter
XM_011524855.1:c.5492C>G XP_011523157.1:p.Ser1831Ter
XM_011524856.1:c.5492C>G XP_011523158.1:p.Ser1831Ter
XM_011524857.1:c.5531C>G XP_011523159.1:p.Ser1844Ter