Canonical Allele Identifier: CA219473

Gene: NF1

Linked Data

• ClinVar Variation Id: 68322
• ClinVar RCV Id: RCV000059174 ; RCV000856621
• dbSNP Id: rs137854566
• COSMIC: COSM3402733 ; COSM3402734
• MyVariant Identifiers: chr17:g.29556164T>C (hg19) ; chr17:g.31229146T>C (hg38)
• PubMed: PMID:29290338

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229146T>C , CM000679.2:g.31229146T>C	GRCh38
NC_000017.10:g.29556164T>C , CM000679.1:g.29556164T>C	GRCh37
NC_000017.9:g.26580290T>C	NCBI36
NG_009018.1:g.139170T>C , LRG_214:g.139170T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.2576T>C	ENSP00000512431.1:p.Leu859Pro
ENST00000691014.1:c.2561T>C	ENSP00000510595.1:p.Leu854Pro
ENST00000358273.9:c.2531T>C MANE Select	ENSP00000351015.4:p.Leu844Pro
ENST00000356175.7:c.2531T>C	ENSP00000348498.3:p.Leu844Pro
ENST00000358273.8:c.2531T>C	ENSP00000351015.4:p.Leu844Pro
ENST00000456735.6:c.1529T>C	ENSP00000389907.2:p.Leu510Pro
ENST00000493220.5:n.698T>C
ENST00000495910.6:c.2306T>C
ENST00000579081.5:c.2633T>C	ENSP00000462408.1:p.Leu878Pro
NM_000267.3:c.2531T>C , LRG_214t1:c.2531T>C	NP_000258.1:p.Leu844Pro
NM_001042492.2:c.2531T>C , LRG_214t2:c.2531T>C	NP_001035957.1:p.Leu844Pro
XM_005257983.1:c.2531T>C	XP_005258040.1:p.Leu844Pro
XM_005257984.1:c.2531T>C	XP_005258041.1:p.Leu844Pro
XM_006721922.1:c.2561T>C	XP_006721985.1:p.Leu854Pro
XM_006721923.2:c.2522T>C	XP_006721986.1:p.Leu841Pro
XM_006721924.1:c.2561T>C	XP_006721987.1:p.Leu854Pro
XM_006721925.1:c.2561T>C	XP_006721988.1:p.Leu854Pro
XM_006721926.2:c.2561T>C	XP_006721989.1:p.Leu854Pro
XM_006721927.1:c.2561T>C	XP_006721990.1:p.Leu854Pro
XM_006721928.2:c.2561T>C	XP_006721991.1:p.Leu854Pro
XM_011524852.1:c.2558T>C	XP_011523154.1:p.Leu853Pro
XM_011524853.1:c.2522T>C	XP_011523155.1:p.Leu841Pro
XM_011524854.1:c.2522T>C	XP_011523156.1:p.Leu841Pro
XM_011524855.1:c.2522T>C	XP_011523157.1:p.Leu841Pro
XM_011524856.1:c.2522T>C	XP_011523158.1:p.Leu841Pro
XM_011524857.1:c.2561T>C	XP_011523159.1:p.Leu854Pro
NM_001042492.3:c.2531T>C MANE Select	NP_001035957.1:p.Leu844Pro