Canonical Allele Identifier: CA8487472
Community Standard Title: NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe)
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31340592C>T , CM000679.2:g.31340592C>T GRCh38
NC_000017.10:g.29667610C>T , CM000679.1:g.29667610C>T GRCh37
NC_000017.9:g.26691736C>T NCBI36
NG_009018.1:g.250616C>T , LRG_214:g.250616C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.7009C>T MANE Select NP_001035957.1:p.Leu2337Phe
ENST00000358273.9:c.7009C>T MANE Select ENSP00000351015.4:p.Leu2337Phe
NM_000267.3:c.6946C>T , LRG_214t1:c.6946C>T NP_000258.1:p.Leu2316Phe
NM_001042492.2:c.7009C>T , LRG_214t2:c.7009C>T NP_001035957.1:p.Leu2337Phe
ENST00000356175.7:c.6946C>T ENSP00000348498.3:p.Leu2316Phe
ENST00000358273.8:c.7009C>T ENSP00000351015.4:p.Leu2337Phe
ENST00000456735.6:c.5944C>T ENSP00000389907.2:p.Leu1982Phe
ENST00000471572.6:c.392C>T
ENST00000579081.5:c.7145C>T ENSP00000462408.1:n.7145C>T
ENST00000581790.5:c.152C>T
ENST00000582892.1:n.304+9C>T
ENST00000584328.1:n.423C>T
ENST00000684826.1:c.1573C>T ENSP00000509994.1:p.Leu525Phe
ENST00000684998.1:n.4530C>T
ENST00000687027.1:c.1165C>T ENSP00000508715.1:p.Leu389Phe
ENST00000687863.1:n.3654C>T
ENST00000691014.1:c.7039C>T ENSP00000510595.1:p.Leu2347Phe
ENST00000693617.1:c.1573C>T ENSP00000510031.1:p.Leu525Phe
ENST00000696138.1:c.6991C>T ENSP00000512431.1:p.Leu2331Phe
XM_005257983.1:c.7009C>T XP_005258040.1:p.Leu2337Phe
XM_005257984.1:c.6946C>T XP_005258041.1:p.Leu2316Phe
XM_006721922.1:c.7039C>T XP_006721985.1:p.Leu2347Phe
XM_006721923.2:c.7000C>T XP_006721986.1:p.Leu2334Phe
XM_006721924.1:c.7039C>T XP_006721987.1:p.Leu2347Phe
XM_006721925.1:c.6976C>T XP_006721988.1:p.Leu2326Phe
XM_006721926.2:c.7039C>T XP_006721989.1:p.Leu2347Phe
XM_006721927.1:c.7039C>T XP_006721990.1:p.Leu2347Phe
XM_011524852.1:c.7036C>T XP_011523154.1:p.Leu2346Phe
XM_011524853.1:c.7000C>T XP_011523155.1:p.Leu2334Phe
XM_011524854.1:c.7000C>T XP_011523156.1:p.Leu2334Phe
XM_011524855.1:c.7000C>T XP_011523157.1:p.Leu2334Phe
XM_011524856.1:c.7000C>T XP_011523158.1:p.Leu2334Phe
XM_011524857.1:c.7039C>T XP_011523159.1:p.Leu2347Phe