Canonical Allele Identifier: CA16042977
Community Standard Title: NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val)
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31357314C>G , CM000679.2:g.31357314C>G GRCh38
NC_000017.10:g.29684332C>G , CM000679.1:g.29684332C>G GRCh37
NC_000017.9:g.26708458C>G NCBI36
NG_009018.1:g.267338C>G , LRG_214:g.267338C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.7915C>G MANE Select NP_001035957.1:p.Leu2639Val
ENST00000358273.9:c.7915C>G MANE Select ENSP00000351015.4:p.Leu2639Val
NM_000267.3:c.7852C>G , LRG_214t1:c.7852C>G NP_000258.1:p.Leu2618Val
NM_001042492.2:c.7915C>G , LRG_214t2:c.7915C>G NP_001035957.1:p.Leu2639Val
ENST00000356175.7:c.7852C>G ENSP00000348498.3:p.Leu2618Val
ENST00000358273.8:c.7915C>G ENSP00000351015.4:p.Leu2639Val
ENST00000456735.6:c.6850C>G ENSP00000389907.2:p.Leu2284Val
ENST00000471572.6:c.1298C>G
ENST00000577967.1:n.1511C>G
ENST00000579081.5:c.8051C>G ENSP00000462408.1:n.8051C>G
ENST00000581790.5:c.900C>G
ENST00000684826.1:c.2479C>G ENSP00000509994.1:p.Leu827Val
ENST00000687027.1:c.2071C>G ENSP00000508715.1:p.Leu691Val
ENST00000687863.1:n.4560C>G
ENST00000689464.1:c.965C>G
ENST00000691014.1:c.7945C>G ENSP00000510595.1:p.Leu2649Val
ENST00000693617.1:c.2479C>G ENSP00000510031.1:p.Leu827Val
ENST00000696138.1:c.7897C>G ENSP00000512431.1:p.Leu2633Val
XM_005257983.1:c.7915C>G XP_005258040.1:p.Leu2639Val
XM_005257984.1:c.7852C>G XP_005258041.1:p.Leu2618Val
XM_006721922.1:c.7945C>G XP_006721985.1:p.Leu2649Val
XM_006721923.2:c.7906C>G XP_006721986.1:p.Leu2636Val
XM_006721924.1:c.7945C>G XP_006721987.1:p.Leu2649Val
XM_006721925.1:c.7882C>G XP_006721988.1:p.Leu2628Val
XM_006721926.2:c.7945C>G XP_006721989.1:p.Leu2649Val
XM_006721927.1:c.7945C>G XP_006721990.1:p.Leu2649Val
XM_011524852.1:c.7942C>G XP_011523154.1:p.Leu2648Val
XM_011524853.1:c.7906C>G XP_011523155.1:p.Leu2636Val
XM_011524854.1:c.7906C>G XP_011523156.1:p.Leu2636Val
XM_011524855.1:c.7906C>G XP_011523157.1:p.Leu2636Val
XM_011524856.1:c.7906C>G XP_011523158.1:p.Leu2636Val
XM_011524857.1:c.7822C>G XP_011523159.1:p.Leu2608Val