Canonical Allele Identifier: CA8487135

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31326082C>T , CM000679.2:g.31326082C>T	GRCh38
NC_000017.10:g.29653100C>T , CM000679.1:g.29653100C>T	GRCh37
NC_000017.9:g.26677226C>T	NCBI36
NG_009018.1:g.236106C>T , LRG_214:g.236106C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.5098C>T MANE Select	NP_001035957.1:p.Leu1700Phe
ENST00000358273.9:c.5098C>T MANE Select	ENSP00000351015.4:p.Leu1700Phe
NM_000267.3:c.5035C>T , LRG_214t1:c.5035C>T	NP_000258.1:p.Leu1679Phe
NM_001042492.2:c.5098C>T , LRG_214t2:c.5098C>T	NP_001035957.1:p.Leu1700Phe
ENST00000356175.7:c.5035C>T	ENSP00000348498.3:p.Leu1679Phe
ENST00000358273.8:c.5098C>T	ENSP00000351015.4:p.Leu1700Phe
ENST00000456735.6:c.4033C>T	ENSP00000389907.2:p.Leu1345Phe
ENST00000493220.5:n.3571C>T
ENST00000579081.5:c.5234C>T	ENSP00000462408.1:n.5234C>T
ENST00000581113.6:n.415C>T
ENST00000581113.7:c.1286C>T	ENSP00000492721.2:n.1286C>T
ENST00000684826.1:c.-339C>T	ENSP00000509994.1:n.-339C>T
ENST00000687027.1:c.-406C>T	ENSP00000508715.1:n.-406C>T
ENST00000687863.1:n.1743C>T
ENST00000691014.1:c.5128C>T	ENSP00000510595.1:p.Leu1710Phe
ENST00000693617.1:c.-339C>T	ENSP00000510031.1:n.-339C>T
ENST00000696138.1:c.5080C>T	ENSP00000512431.1:p.Leu1694Phe
XM_005257983.1:c.5098C>T	XP_005258040.1:p.Leu1700Phe
XM_005257984.1:c.5035C>T	XP_005258041.1:p.Leu1679Phe
XM_006721922.1:c.5128C>T	XP_006721985.1:p.Leu1710Phe
XM_006721923.2:c.5089C>T	XP_006721986.1:p.Leu1697Phe
XM_006721924.1:c.5128C>T	XP_006721987.1:p.Leu1710Phe
XM_006721925.1:c.5065C>T	XP_006721988.1:p.Leu1689Phe
XM_006721926.2:c.5128C>T	XP_006721989.1:p.Leu1710Phe
XM_006721927.1:c.5128C>T	XP_006721990.1:p.Leu1710Phe
XM_011524852.1:c.5125C>T	XP_011523154.1:p.Leu1709Phe
XM_011524853.1:c.5089C>T	XP_011523155.1:p.Leu1697Phe
XM_011524854.1:c.5089C>T	XP_011523156.1:p.Leu1697Phe
XM_011524855.1:c.5089C>T	XP_011523157.1:p.Leu1697Phe
XM_011524856.1:c.5089C>T	XP_011523158.1:p.Leu1697Phe
XM_011524857.1:c.5128C>T	XP_011523159.1:p.Leu1710Phe