Canonical Allele Identifier: CA212552

Gene: NF1

Linked Data

• ClinVar Variation Id: 368
• ClinVar RCV Id: RCV002476903 ; RCV002496218
• dbSNP Id: rs137854563
• MyVariant Identifiers: chr17:g.29528062T>C (hg19) ; chr17:g.31201044T>C (hg38)
• PubMed: PMID:9132486 ; PMID:10712197 ; PMID:10862084

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.1070T>C	ENSP00000512431.1:p.Leu357Pro
ENST00000686189.1:c.485T>C	ENSP00000509682.1:p.Leu162Pro
ENST00000688507.1:n.776T>C
ENST00000691014.1:c.1070T>C	ENSP00000510595.1:p.Leu357Pro
ENST00000692326.1:n.1353T>C
ENST00000358273.9:c.1070T>C MANE Select	ENSP00000351015.4:p.Leu357Pro
ENST00000356175.7:c.1070T>C	ENSP00000348498.3:p.Leu357Pro
ENST00000358273.8:c.1070T>C	ENSP00000351015.4:p.Leu357Pro
ENST00000431387.8:c.1070T>C	ENSP00000412921.4:p.Leu357Pro
ENST00000456735.6:c.68T>C	ENSP00000389907.2:p.Leu23Pro
ENST00000487476.5:n.1453T>C
ENST00000495910.6:c.845T>C
ENST00000579081.5:c.1172T>C	ENSP00000462408.1:p.Leu391Pro
NM_000267.3:c.1070T>C , LRG_214t1:c.1070T>C	NP_000258.1:p.Leu357Pro
NM_001042492.2:c.1070T>C , LRG_214t2:c.1070T>C	NP_001035957.1:p.Leu357Pro
NM_001128147.2:c.1070T>C	NP_001121619.1:p.Leu357Pro
XM_005257983.1:c.1070T>C	XP_005258040.1:p.Leu357Pro
XM_005257984.1:c.1070T>C	XP_005258041.1:p.Leu357Pro
XM_006721922.1:c.1070T>C	XP_006721985.1:p.Leu357Pro
XM_006721923.2:c.1031T>C	XP_006721986.1:p.Leu344Pro
XM_006721924.1:c.1070T>C	XP_006721987.1:p.Leu357Pro
XM_006721925.1:c.1070T>C	XP_006721988.1:p.Leu357Pro
XM_006721926.2:c.1070T>C	XP_006721989.1:p.Leu357Pro
XM_006721927.1:c.1070T>C	XP_006721990.1:p.Leu357Pro
XM_006721928.2:c.1070T>C	XP_006721991.1:p.Leu357Pro
XM_011524852.1:c.1070T>C	XP_011523154.1:p.Leu357Pro
XM_011524853.1:c.1031T>C	XP_011523155.1:p.Leu344Pro
XM_011524854.1:c.1031T>C	XP_011523156.1:p.Leu344Pro
XM_011524855.1:c.1031T>C	XP_011523157.1:p.Leu344Pro
XM_011524856.1:c.1031T>C	XP_011523158.1:p.Leu344Pro
XM_011524857.1:c.1070T>C	XP_011523159.1:p.Leu357Pro
NM_001042492.3:c.1070T>C MANE Select	NP_001035957.1:p.Leu357Pro
NM_001128147.3:c.1070T>C	NP_001121619.1:p.Leu357Pro