Canonical Allele Identifier: CA399010356
Community Standard Title: NM_001042492.3(NF1):c.5734A>C (p.Ser1912Arg)
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31330420A>C , CM000679.2:g.31330420A>C GRCh38
NC_000017.10:g.29657438A>C , CM000679.1:g.29657438A>C GRCh37
NC_000017.9:g.26681564A>C NCBI36
NG_009018.1:g.240444A>C , LRG_214:g.240444A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.5734A>C MANE Select NP_001035957.1:p.Ser1912Arg
ENST00000358273.9:c.5734A>C MANE Select ENSP00000351015.4:p.Ser1912Arg
NM_000267.3:c.5671A>C , LRG_214t1:c.5671A>C NP_000258.1:p.Ser1891Arg
NM_001042492.2:c.5734A>C , LRG_214t2:c.5734A>C NP_001035957.1:p.Ser1912Arg
ENST00000356175.7:c.5671A>C ENSP00000348498.3:p.Ser1891Arg
ENST00000358273.8:c.5734A>C ENSP00000351015.4:p.Ser1912Arg
ENST00000456735.6:c.4669A>C ENSP00000389907.2:p.Ser1557Arg
ENST00000479536.2:c.92A>C
ENST00000493220.5:n.4207A>C
ENST00000579081.5:c.5870A>C ENSP00000462408.1:n.5870A>C
ENST00000581113.6:n.1051A>C
ENST00000581113.7:c.1922A>C ENSP00000492721.2:n.1922A>C
ENST00000684826.1:c.298A>C ENSP00000509994.1:p.Ser100Arg
ENST00000687027.1:c.-111A>C ENSP00000508715.1:n.-111A>C
ENST00000687863.1:n.2379A>C
ENST00000691014.1:c.5764A>C ENSP00000510595.1:p.Ser1922Arg
ENST00000693617.1:c.298A>C ENSP00000510031.1:p.Ser100Arg
ENST00000696138.1:c.5716A>C ENSP00000512431.1:p.Ser1906Arg
XM_005257983.1:c.5734A>C XP_005258040.1:p.Ser1912Arg
XM_005257984.1:c.5671A>C XP_005258041.1:p.Ser1891Arg
XM_006721922.1:c.5764A>C XP_006721985.1:p.Ser1922Arg
XM_006721923.2:c.5725A>C XP_006721986.1:p.Ser1909Arg
XM_006721924.1:c.5764A>C XP_006721987.1:p.Ser1922Arg
XM_006721925.1:c.5701A>C XP_006721988.1:p.Ser1901Arg
XM_006721926.2:c.5764A>C XP_006721989.1:p.Ser1922Arg
XM_006721927.1:c.5764A>C XP_006721990.1:p.Ser1922Arg
XM_011524852.1:c.5761A>C XP_011523154.1:p.Ser1921Arg
XM_011524853.1:c.5725A>C XP_011523155.1:p.Ser1909Arg
XM_011524854.1:c.5725A>C XP_011523156.1:p.Ser1909Arg
XM_011524855.1:c.5725A>C XP_011523157.1:p.Ser1909Arg
XM_011524856.1:c.5725A>C XP_011523158.1:p.Ser1909Arg
XM_011524857.1:c.5764A>C XP_011523159.1:p.Ser1922Arg