Canonical Allele Identifier: CA165101

Gene: NF1

Linked Data

• ClinVar Variation Id: 68326
• ClinVar RCV Id: RCV000059178 ; RCV000129792 ; RCV000823359 ; RCV002477208
• dbSNP Id: rs199474786
• MyVariant Identifiers: chr17:g.29556326T>C (hg19) ; chr17:g.31229308T>C (hg38)
• PubMed: PMID:9150739 ; PMID:12522551

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229308T>C , CM000679.2:g.31229308T>C	GRCh38
NC_000017.10:g.29556326T>C , CM000679.1:g.29556326T>C	GRCh37
NC_000017.9:g.26580452T>C	NCBI36
NG_009018.1:g.139332T>C , LRG_214:g.139332T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.2738T>C	ENSP00000512431.1:p.Leu913Pro
ENST00000696139.1:c.38T>C	ENSP00000512432.1:p.Leu13Pro
ENST00000691014.1:c.2723T>C	ENSP00000510595.1:p.Leu908Pro
ENST00000358273.9:c.2693T>C MANE Select	ENSP00000351015.4:p.Leu898Pro
ENST00000356175.7:c.2693T>C	ENSP00000348498.3:p.Leu898Pro
ENST00000358273.8:c.2693T>C	ENSP00000351015.4:p.Leu898Pro
ENST00000456735.6:c.1691T>C	ENSP00000389907.2:p.Leu564Pro
ENST00000493220.5:n.860T>C
ENST00000495910.6:c.2468T>C
ENST00000579081.5:c.2795T>C	ENSP00000462408.1:p.Leu932Pro
NM_000267.3:c.2693T>C , LRG_214t1:c.2693T>C	NP_000258.1:p.Leu898Pro
NM_001042492.2:c.2693T>C , LRG_214t2:c.2693T>C	NP_001035957.1:p.Leu898Pro
XM_005257983.1:c.2693T>C	XP_005258040.1:p.Leu898Pro
XM_005257984.1:c.2693T>C	XP_005258041.1:p.Leu898Pro
XM_006721922.1:c.2723T>C	XP_006721985.1:p.Leu908Pro
XM_006721923.2:c.2684T>C	XP_006721986.1:p.Leu895Pro
XM_006721924.1:c.2723T>C	XP_006721987.1:p.Leu908Pro
XM_006721925.1:c.2723T>C	XP_006721988.1:p.Leu908Pro
XM_006721926.2:c.2723T>C	XP_006721989.1:p.Leu908Pro
XM_006721927.1:c.2723T>C	XP_006721990.1:p.Leu908Pro
XM_006721928.2:c.2723T>C	XP_006721991.1:p.Leu908Pro
XM_011524852.1:c.2720T>C	XP_011523154.1:p.Leu907Pro
XM_011524853.1:c.2684T>C	XP_011523155.1:p.Leu895Pro
XM_011524854.1:c.2684T>C	XP_011523156.1:p.Leu895Pro
XM_011524855.1:c.2684T>C	XP_011523157.1:p.Leu895Pro
XM_011524856.1:c.2684T>C	XP_011523158.1:p.Leu895Pro
XM_011524857.1:c.2723T>C	XP_011523159.1:p.Leu908Pro
NM_001042492.3:c.2693T>C MANE Select	NP_001035957.1:p.Leu898Pro