Canonical Allele Identifier: CA399014248

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29665726T>C (hg19) ; chr17:g.31338708T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338708T>C , CM000679.2:g.31338708T>C	GRCh38
NC_000017.10:g.29665726T>C , CM000679.1:g.29665726T>C	GRCh37
NC_000017.9:g.26689852T>C	NCBI36
NG_009018.1:g.248732T>C , LRG_214:g.248732T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6806T>C	ENSP00000512431.1:p.Leu2269Pro
ENST00000684826.1:c.1388T>C	ENSP00000509994.1:p.Leu463Pro
ENST00000684998.1:n.2646T>C
ENST00000687027.1:c.980T>C	ENSP00000508715.1:p.Leu327Pro
ENST00000687863.1:n.3469T>C
ENST00000691014.1:c.6854T>C	ENSP00000510595.1:p.Leu2285Pro
ENST00000693617.1:c.1388T>C	ENSP00000510031.1:p.Leu463Pro
ENST00000358273.9:c.6824T>C MANE Select	ENSP00000351015.4:p.Leu2275Pro
ENST00000356175.7:c.6761T>C	ENSP00000348498.3:p.Leu2254Pro
ENST00000358273.8:c.6824T>C	ENSP00000351015.4:p.Leu2275Pro
ENST00000456735.6:c.5759T>C	ENSP00000389907.2:p.Leu1920Pro
ENST00000471572.6:c.207T>C
ENST00000579081.5:c.6960T>C	ENSP00000462408.1:n.6960T>C
ENST00000581790.5:c.64+828T>C
ENST00000584328.1:n.238T>C
NM_000267.3:c.6761T>C , LRG_214t1:c.6761T>C	NP_000258.1:p.Leu2254Pro
NM_001042492.2:c.6824T>C , LRG_214t2:c.6824T>C	NP_001035957.1:p.Leu2275Pro
XM_005257983.1:c.6824T>C	XP_005258040.1:p.Leu2275Pro
XM_005257984.1:c.6761T>C	XP_005258041.1:p.Leu2254Pro
XM_006721922.1:c.6854T>C	XP_006721985.1:p.Leu2285Pro
XM_006721923.2:c.6815T>C	XP_006721986.1:p.Leu2272Pro
XM_006721924.1:c.6854T>C	XP_006721987.1:p.Leu2285Pro
XM_006721925.1:c.6791T>C	XP_006721988.1:p.Leu2264Pro
XM_006721926.2:c.6854T>C	XP_006721989.1:p.Leu2285Pro
XM_006721927.1:c.6854T>C	XP_006721990.1:p.Leu2285Pro
XM_011524852.1:c.6851T>C	XP_011523154.1:p.Leu2284Pro
XM_011524853.1:c.6815T>C	XP_011523155.1:p.Leu2272Pro
XM_011524854.1:c.6815T>C	XP_011523156.1:p.Leu2272Pro
XM_011524855.1:c.6815T>C	XP_011523157.1:p.Leu2272Pro
XM_011524856.1:c.6815T>C	XP_011523158.1:p.Leu2272Pro
XM_011524857.1:c.6854T>C	XP_011523159.1:p.Leu2285Pro
NM_001042492.3:c.6824T>C MANE Select	NP_001035957.1:p.Leu2275Pro