Canonical Allele Identifier: CA398990730

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29560223T>C (hg19) ; chr17:g.31233205T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233205T>C , CM000679.2:g.31233205T>C	GRCh38
NC_000017.10:g.29560223T>C , CM000679.1:g.29560223T>C	GRCh37
NC_000017.9:g.26584349T>C	NCBI36
NG_009018.1:g.143229T>C , LRG_214:g.143229T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3745T>C	ENSP00000512431.1:p.Ser1249Pro
ENST00000696139.1:c.1045T>C	ENSP00000512432.1:p.Ser349Pro
ENST00000691014.1:c.3730T>C	ENSP00000510595.1:p.Ser1244Pro
ENST00000693210.1:n.426T>C
ENST00000358273.9:c.3700T>C MANE Select	ENSP00000351015.4:p.Ser1234Pro
ENST00000356175.7:c.3700T>C	ENSP00000348498.3:p.Ser1234Pro
ENST00000358273.8:c.3700T>C	ENSP00000351015.4:p.Ser1234Pro
ENST00000456735.6:c.2698T>C	ENSP00000389907.2:p.Ser900Pro
ENST00000466819.5:c.176T>C
ENST00000479614.1:c.176T>C
ENST00000493220.5:n.2236T>C
ENST00000495910.6:c.3475T>C
ENST00000579081.5:c.3802T>C	ENSP00000462408.1:p.Ser1268Pro
NM_000267.3:c.3700T>C , LRG_214t1:c.3700T>C	NP_000258.1:p.Ser1234Pro
NM_001042492.2:c.3700T>C , LRG_214t2:c.3700T>C	NP_001035957.1:p.Ser1234Pro
XM_005257983.1:c.3700T>C	XP_005258040.1:p.Ser1234Pro
XM_005257984.1:c.3700T>C	XP_005258041.1:p.Ser1234Pro
XM_006721922.1:c.3730T>C	XP_006721985.1:p.Ser1244Pro
XM_006721923.2:c.3691T>C	XP_006721986.1:p.Ser1231Pro
XM_006721924.1:c.3730T>C	XP_006721987.1:p.Ser1244Pro
XM_006721925.1:c.3730T>C	XP_006721988.1:p.Ser1244Pro
XM_006721926.2:c.3730T>C	XP_006721989.1:p.Ser1244Pro
XM_006721927.1:c.3730T>C	XP_006721990.1:p.Ser1244Pro
XM_006721928.2:c.3730T>C	XP_006721991.1:p.Ser1244Pro
XM_011524852.1:c.3727T>C	XP_011523154.1:p.Ser1243Pro
XM_011524853.1:c.3691T>C	XP_011523155.1:p.Ser1231Pro
XM_011524854.1:c.3691T>C	XP_011523156.1:p.Ser1231Pro
XM_011524855.1:c.3691T>C	XP_011523157.1:p.Ser1231Pro
XM_011524856.1:c.3691T>C	XP_011523158.1:p.Ser1231Pro
XM_011524857.1:c.3730T>C	XP_011523159.1:p.Ser1244Pro
NM_001042492.3:c.3700T>C MANE Select	NP_001035957.1:p.Ser1234Pro