Canonical Allele Identifier: CA499234327

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29665737T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338719T>C , CM000679.2:g.31338719T>C	GRCh38
NC_000017.10:g.29665737T>C , CM000679.1:g.29665737T>C	GRCh37
NC_000017.9:g.26689863T>C	NCBI36
NG_009018.1:g.248743T>C , LRG_214:g.248743T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6817T>C	ENSP00000512431.1:p.Leu2273=
ENST00000684826.1:c.1399T>C	ENSP00000509994.1:p.Leu467=
ENST00000684998.1:n.2657T>C
ENST00000687027.1:c.991T>C	ENSP00000508715.1:p.Leu331=
ENST00000687863.1:n.3480T>C
ENST00000691014.1:c.6865T>C	ENSP00000510595.1:p.Leu2289=
ENST00000693617.1:c.1399T>C	ENSP00000510031.1:p.Leu467=
ENST00000358273.9:c.6835T>C MANE Select	ENSP00000351015.4:p.Leu2279=
ENST00000356175.7:c.6772T>C	ENSP00000348498.3:p.Leu2258=
ENST00000358273.8:c.6835T>C	ENSP00000351015.4:p.Leu2279=
ENST00000456735.6:c.5770T>C	ENSP00000389907.2:p.Leu1924=
ENST00000471572.6:c.218T>C
ENST00000579081.5:c.6971T>C	ENSP00000462408.1:n.6971T>C
ENST00000581790.5:c.64+839T>C
ENST00000584328.1:n.249T>C
NM_000267.3:c.6772T>C , LRG_214t1:c.6772T>C	NP_000258.1:p.Leu2258=
NM_001042492.2:c.6835T>C , LRG_214t2:c.6835T>C	NP_001035957.1:p.Leu2279=
XM_005257983.1:c.6835T>C	XP_005258040.1:p.Leu2279=
XM_005257984.1:c.6772T>C	XP_005258041.1:p.Leu2258=
XM_006721922.1:c.6865T>C	XP_006721985.1:p.Leu2289=
XM_006721923.2:c.6826T>C	XP_006721986.1:p.Leu2276=
XM_006721924.1:c.6865T>C	XP_006721987.1:p.Leu2289=
XM_006721925.1:c.6802T>C	XP_006721988.1:p.Leu2268=
XM_006721926.2:c.6865T>C	XP_006721989.1:p.Leu2289=
XM_006721927.1:c.6865T>C	XP_006721990.1:p.Leu2289=
XM_011524852.1:c.6862T>C	XP_011523154.1:p.Leu2288=
XM_011524853.1:c.6826T>C	XP_011523155.1:p.Leu2276=
XM_011524854.1:c.6826T>C	XP_011523156.1:p.Leu2276=
XM_011524855.1:c.6826T>C	XP_011523157.1:p.Leu2276=
XM_011524856.1:c.6826T>C	XP_011523158.1:p.Leu2276=
XM_011524857.1:c.6865T>C	XP_011523159.1:p.Leu2289=
NM_001042492.3:c.6835T>C MANE Select	NP_001035957.1:p.Leu2279=