Canonical Allele Identifier: CA399014064

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29665081C>T (hg19) ; chr17:g.31338063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338063C>T , CM000679.2:g.31338063C>T	GRCh38
NC_000017.10:g.29665081C>T , CM000679.1:g.29665081C>T	GRCh37
NC_000017.9:g.26689207C>T	NCBI36
NG_009018.1:g.248087C>T , LRG_214:g.248087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6725C>T	ENSP00000512431.1:p.Ala2242Val
ENST00000684826.1:c.1307C>T	ENSP00000509994.1:p.Ala436Val
ENST00000684998.1:n.2001C>T
ENST00000687027.1:c.899C>T	ENSP00000508715.1:p.Ala300Val
ENST00000687863.1:n.3388C>T
ENST00000691014.1:c.6773C>T	ENSP00000510595.1:p.Ala2258Val
ENST00000693617.1:c.1307C>T	ENSP00000510031.1:p.Ala436Val
ENST00000358273.9:c.6743C>T MANE Select	ENSP00000351015.4:p.Ala2248Val
ENST00000356175.7:c.6680C>T	ENSP00000348498.3:p.Ala2227Val
ENST00000358273.8:c.6743C>T	ENSP00000351015.4:p.Ala2248Val
ENST00000456735.6:c.5678C>T	ENSP00000389907.2:p.Ala1893Val
ENST00000471572.6:c.126C>T
ENST00000579081.5:c.6879C>T	ENSP00000462408.1:n.6879C>T
ENST00000581790.5:c.64+183C>T
ENST00000584328.1:n.157C>T
NM_000267.3:c.6680C>T , LRG_214t1:c.6680C>T	NP_000258.1:p.Ala2227Val
NM_001042492.2:c.6743C>T , LRG_214t2:c.6743C>T	NP_001035957.1:p.Ala2248Val
XM_005257983.1:c.6743C>T	XP_005258040.1:p.Ala2248Val
XM_005257984.1:c.6680C>T	XP_005258041.1:p.Ala2227Val
XM_006721922.1:c.6773C>T	XP_006721985.1:p.Ala2258Val
XM_006721923.2:c.6734C>T	XP_006721986.1:p.Ala2245Val
XM_006721924.1:c.6773C>T	XP_006721987.1:p.Ala2258Val
XM_006721925.1:c.6710C>T	XP_006721988.1:p.Ala2237Val
XM_006721926.2:c.6773C>T	XP_006721989.1:p.Ala2258Val
XM_006721927.1:c.6773C>T	XP_006721990.1:p.Ala2258Val
XM_011524852.1:c.6770C>T	XP_011523154.1:p.Ala2257Val
XM_011524853.1:c.6734C>T	XP_011523155.1:p.Ala2245Val
XM_011524854.1:c.6734C>T	XP_011523156.1:p.Ala2245Val
XM_011524855.1:c.6734C>T	XP_011523157.1:p.Ala2245Val
XM_011524856.1:c.6734C>T	XP_011523158.1:p.Ala2245Val
XM_011524857.1:c.6773C>T	XP_011523159.1:p.Ala2258Val
NM_001042492.3:c.6743C>T MANE Select	NP_001035957.1:p.Ala2248Val