Canonical Allele Identifier: CA8487177
Community Standard Title: NM_001042492.3(NF1):c.5358G>A (p.Ser1786=)
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31327588G>A , CM000679.2:g.31327588G>A GRCh38
NC_000017.10:g.29654606G>A , CM000679.1:g.29654606G>A GRCh37
NC_000017.9:g.26678732G>A NCBI36
NG_009018.1:g.237612G>A , LRG_214:g.237612G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.5358G>A MANE Select NP_001035957.1:p.Ser1786=
ENST00000358273.9:c.5358G>A MANE Select ENSP00000351015.4:p.Ser1786=
NM_000267.3:c.5295G>A , LRG_214t1:c.5295G>A NP_000258.1:p.Ser1765=
NM_001042492.2:c.5358G>A , LRG_214t2:c.5358G>A NP_001035957.1:p.Ser1786=
ENST00000356175.7:c.5295G>A ENSP00000348498.3:p.Ser1765=
ENST00000358273.8:c.5358G>A ENSP00000351015.4:p.Ser1786=
ENST00000456735.6:c.4293G>A ENSP00000389907.2:p.Ser1431=
ENST00000493220.5:n.3831G>A
ENST00000579081.5:c.5494G>A ENSP00000462408.1:n.5494G>A
ENST00000581113.6:n.675G>A
ENST00000581113.7:c.1546G>A ENSP00000492721.2:n.1546G>A
ENST00000684826.1:c.-79G>A ENSP00000509994.1:n.-79G>A
ENST00000687027.1:c.-236+1336G>A ENSP00000508715.1:n.-236+1336G>A
ENST00000687863.1:n.2003G>A
ENST00000691014.1:c.5388G>A ENSP00000510595.1:p.Ser1796=
ENST00000693617.1:c.-79G>A ENSP00000510031.1:n.-79G>A
ENST00000696138.1:c.5340G>A ENSP00000512431.1:p.Ser1780=
XM_005257983.1:c.5358G>A XP_005258040.1:p.Ser1786=
XM_005257984.1:c.5295G>A XP_005258041.1:p.Ser1765=
XM_006721922.1:c.5388G>A XP_006721985.1:p.Ser1796=
XM_006721923.2:c.5349G>A XP_006721986.1:p.Ser1783=
XM_006721924.1:c.5388G>A XP_006721987.1:p.Ser1796=
XM_006721925.1:c.5325G>A XP_006721988.1:p.Ser1775=
XM_006721926.2:c.5388G>A XP_006721989.1:p.Ser1796=
XM_006721927.1:c.5388G>A XP_006721990.1:p.Ser1796=
XM_011524852.1:c.5385G>A XP_011523154.1:p.Ser1795=
XM_011524853.1:c.5349G>A XP_011523155.1:p.Ser1783=
XM_011524854.1:c.5349G>A XP_011523156.1:p.Ser1783=
XM_011524855.1:c.5349G>A XP_011523157.1:p.Ser1783=
XM_011524856.1:c.5349G>A XP_011523158.1:p.Ser1783=
XM_011524857.1:c.5388G>A XP_011523159.1:p.Ser1796=