Canonical Allele Identifier: CA10580209

Gene: NF1

Linked Data

• ClinVar Variation Id: 232517
• ClinVar RCV Id: RCV000216480 ; RCV000487279 ; RCV000808095
• dbSNP Id: rs137854563
• MyVariant Identifiers: chr17:g.29528062T>G (hg19) ; chr17:g.31201044T>G (hg38)
• PubMed: PMID:10712197 ; PMID:12566521

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31201044T>G , CM000679.2:g.31201044T>G	GRCh38
NC_000017.10:g.29528062T>G , CM000679.1:g.29528062T>G	GRCh37
NC_000017.9:g.26552188T>G	NCBI36
NG_009018.1:g.111068T>G , LRG_214:g.111068T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.1070T>G	ENSP00000512431.1:p.Leu357Arg
ENST00000686189.1:c.485T>G	ENSP00000509682.1:p.Leu162Arg
ENST00000688507.1:n.776T>G
ENST00000691014.1:c.1070T>G	ENSP00000510595.1:p.Leu357Arg
ENST00000692326.1:n.1353T>G
ENST00000358273.9:c.1070T>G MANE Select	ENSP00000351015.4:p.Leu357Arg
ENST00000356175.7:c.1070T>G	ENSP00000348498.3:p.Leu357Arg
ENST00000358273.8:c.1070T>G	ENSP00000351015.4:p.Leu357Arg
ENST00000431387.8:c.1070T>G	ENSP00000412921.4:p.Leu357Arg
ENST00000456735.6:c.68T>G	ENSP00000389907.2:p.Leu23Arg
ENST00000487476.5:n.1453T>G
ENST00000495910.6:c.845T>G
ENST00000579081.5:c.1172T>G	ENSP00000462408.1:p.Leu391Arg
NM_000267.3:c.1070T>G , LRG_214t1:c.1070T>G	NP_000258.1:p.Leu357Arg
NM_001042492.2:c.1070T>G , LRG_214t2:c.1070T>G	NP_001035957.1:p.Leu357Arg
NM_001128147.2:c.1070T>G	NP_001121619.1:p.Leu357Arg
XM_005257983.1:c.1070T>G	XP_005258040.1:p.Leu357Arg
XM_005257984.1:c.1070T>G	XP_005258041.1:p.Leu357Arg
XM_006721922.1:c.1070T>G	XP_006721985.1:p.Leu357Arg
XM_006721923.2:c.1031T>G	XP_006721986.1:p.Leu344Arg
XM_006721924.1:c.1070T>G	XP_006721987.1:p.Leu357Arg
XM_006721925.1:c.1070T>G	XP_006721988.1:p.Leu357Arg
XM_006721926.2:c.1070T>G	XP_006721989.1:p.Leu357Arg
XM_006721927.1:c.1070T>G	XP_006721990.1:p.Leu357Arg
XM_006721928.2:c.1070T>G	XP_006721991.1:p.Leu357Arg
XM_011524852.1:c.1070T>G	XP_011523154.1:p.Leu357Arg
XM_011524853.1:c.1031T>G	XP_011523155.1:p.Leu344Arg
XM_011524854.1:c.1031T>G	XP_011523156.1:p.Leu344Arg
XM_011524855.1:c.1031T>G	XP_011523157.1:p.Leu344Arg
XM_011524856.1:c.1031T>G	XP_011523158.1:p.Leu344Arg
XM_011524857.1:c.1070T>G	XP_011523159.1:p.Leu357Arg
NM_001042492.3:c.1070T>G MANE Select	NP_001035957.1:p.Leu357Arg
NM_001128147.3:c.1070T>G	NP_001121619.1:p.Leu357Arg