Canonical Allele Identifier: CA499219350
Gene: NF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.29528063T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31201045T>C , CM000679.2:g.31201045T>C GRCh38
NC_000017.10:g.29528063T>C , CM000679.1:g.29528063T>C GRCh37
NC_000017.9:g.26552189T>C NCBI36
NG_009018.1:g.111069T>C , LRG_214:g.111069T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.1071T>C ENSP00000512431.1:p.Leu357=
ENST00000686189.1:c.486T>C ENSP00000509682.1:p.Leu162=
ENST00000688507.1:n.777T>C
ENST00000691014.1:c.1071T>C ENSP00000510595.1:p.Leu357=
ENST00000692326.1:n.1354T>C
ENST00000358273.9:c.1071T>C MANE Select ENSP00000351015.4:p.Leu357=
ENST00000356175.7:c.1071T>C ENSP00000348498.3:p.Leu357=
ENST00000358273.8:c.1071T>C ENSP00000351015.4:p.Leu357=
ENST00000431387.8:c.1071T>C ENSP00000412921.4:p.Leu357=
ENST00000456735.6:c.69T>C ENSP00000389907.2:p.Leu23=
ENST00000487476.5:n.1454T>C
ENST00000495910.6:c.846T>C
ENST00000579081.5:c.1173T>C ENSP00000462408.1:p.Leu391=
NM_000267.3:c.1071T>C , LRG_214t1:c.1071T>C NP_000258.1:p.Leu357=
NM_001042492.2:c.1071T>C , LRG_214t2:c.1071T>C NP_001035957.1:p.Leu357=
NM_001128147.2:c.1071T>C NP_001121619.1:p.Leu357=
XM_005257983.1:c.1071T>C XP_005258040.1:p.Leu357=
XM_005257984.1:c.1071T>C XP_005258041.1:p.Leu357=
XM_006721922.1:c.1071T>C XP_006721985.1:p.Leu357=
XM_006721923.2:c.1032T>C XP_006721986.1:p.Leu344=
XM_006721924.1:c.1071T>C XP_006721987.1:p.Leu357=
XM_006721925.1:c.1071T>C XP_006721988.1:p.Leu357=
XM_006721926.2:c.1071T>C XP_006721989.1:p.Leu357=
XM_006721927.1:c.1071T>C XP_006721990.1:p.Leu357=
XM_006721928.2:c.1071T>C XP_006721991.1:p.Leu357=
XM_011524852.1:c.1071T>C XP_011523154.1:p.Leu357=
XM_011524853.1:c.1032T>C XP_011523155.1:p.Leu344=
XM_011524854.1:c.1032T>C XP_011523156.1:p.Leu344=
XM_011524855.1:c.1032T>C XP_011523157.1:p.Leu344=
XM_011524856.1:c.1032T>C XP_011523158.1:p.Leu344=
XM_011524857.1:c.1071T>C XP_011523159.1:p.Leu357=
NM_001042492.3:c.1071T>C MANE Select NP_001035957.1:p.Leu357=
NM_001128147.3:c.1071T>C NP_001121619.1:p.Leu357=