Canonical Allele Identifier: CA399010377
Community Standard Title: NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys)
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31330427C>A , CM000679.2:g.31330427C>A GRCh38
NC_000017.10:g.29657445C>A , CM000679.1:g.29657445C>A GRCh37
NC_000017.9:g.26681571C>A NCBI36
NG_009018.1:g.240451C>A , LRG_214:g.240451C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.5741C>A MANE Select NP_001035957.1:p.Thr1914Lys
ENST00000358273.9:c.5741C>A MANE Select ENSP00000351015.4:p.Thr1914Lys
NM_000267.3:c.5678C>A , LRG_214t1:c.5678C>A NP_000258.1:p.Thr1893Lys
NM_001042492.2:c.5741C>A , LRG_214t2:c.5741C>A NP_001035957.1:p.Thr1914Lys
ENST00000356175.7:c.5678C>A ENSP00000348498.3:p.Thr1893Lys
ENST00000358273.8:c.5741C>A ENSP00000351015.4:p.Thr1914Lys
ENST00000456735.6:c.4676C>A ENSP00000389907.2:p.Thr1559Lys
ENST00000479536.2:c.99C>A
ENST00000493220.5:n.4214C>A
ENST00000579081.5:c.5877C>A ENSP00000462408.1:n.5877C>A
ENST00000581113.6:n.1058C>A
ENST00000581113.7:c.1929C>A ENSP00000492721.2:n.1929C>A
ENST00000684826.1:c.305C>A ENSP00000509994.1:p.Thr102Lys
ENST00000687027.1:c.-104C>A ENSP00000508715.1:n.-104C>A
ENST00000687863.1:n.2386C>A
ENST00000691014.1:c.5771C>A ENSP00000510595.1:p.Thr1924Lys
ENST00000693617.1:c.305C>A ENSP00000510031.1:p.Thr102Lys
ENST00000696138.1:c.5723C>A ENSP00000512431.1:p.Thr1908Lys
XM_005257983.1:c.5741C>A XP_005258040.1:p.Thr1914Lys
XM_005257984.1:c.5678C>A XP_005258041.1:p.Thr1893Lys
XM_006721922.1:c.5771C>A XP_006721985.1:p.Thr1924Lys
XM_006721923.2:c.5732C>A XP_006721986.1:p.Thr1911Lys
XM_006721924.1:c.5771C>A XP_006721987.1:p.Thr1924Lys
XM_006721925.1:c.5708C>A XP_006721988.1:p.Thr1903Lys
XM_006721926.2:c.5771C>A XP_006721989.1:p.Thr1924Lys
XM_006721927.1:c.5771C>A XP_006721990.1:p.Thr1924Lys
XM_011524852.1:c.5768C>A XP_011523154.1:p.Thr1923Lys
XM_011524853.1:c.5732C>A XP_011523155.1:p.Thr1911Lys
XM_011524854.1:c.5732C>A XP_011523156.1:p.Thr1911Lys
XM_011524855.1:c.5732C>A XP_011523157.1:p.Thr1911Lys
XM_011524856.1:c.5732C>A XP_011523158.1:p.Thr1911Lys
XM_011524857.1:c.5771C>A XP_011523159.1:p.Thr1924Lys