Canonical Allele Identifier: CA398985291

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31169967G>T , CM000679.2:g.31169967G>T	GRCh38
NC_000017.10:g.29496985G>T , CM000679.1:g.29496985G>T	GRCh37
NC_000017.9:g.26521111G>T	NCBI36
NG_009018.1:g.79991G>T , LRG_214:g.79991G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.556G>T	ENSP00000512431.1:p.Asp186Tyr
ENST00000691014.1:c.556G>T	ENSP00000510595.1:p.Asp186Tyr
ENST00000358273.9:c.556G>T MANE Select	ENSP00000351015.4:p.Asp186Tyr
ENST00000490416.2:c.166+6591G>T	ENSP00000491431.1:n.166+6591G>T
ENST00000356175.7:c.556G>T	ENSP00000348498.3:p.Asp186Tyr
ENST00000358273.8:c.556G>T	ENSP00000351015.4:p.Asp186Tyr
ENST00000431387.8:c.556G>T	ENSP00000412921.4:p.Asp186Tyr
ENST00000487476.5:n.939G>T
ENST00000490416.1:n.220+6591G>T
ENST00000495910.6:c.361+6591G>T
ENST00000579081.5:c.658G>T	ENSP00000462408.1:p.Asp220Tyr
NM_000267.3:c.556G>T , LRG_214t1:c.556G>T	NP_000258.1:p.Asp186Tyr
NM_001042492.2:c.556G>T , LRG_214t2:c.556G>T	NP_001035957.1:p.Asp186Tyr
NM_001128147.2:c.556G>T	NP_001121619.1:p.Asp186Tyr
XM_005257983.1:c.556G>T	XP_005258040.1:p.Asp186Tyr
XM_005257984.1:c.556G>T	XP_005258041.1:p.Asp186Tyr
XM_006721922.1:c.556G>T	XP_006721985.1:p.Asp186Tyr
XM_006721923.2:c.517G>T	XP_006721986.1:p.Asp173Tyr
XM_006721924.1:c.556G>T	XP_006721987.1:p.Asp186Tyr
XM_006721925.1:c.556G>T	XP_006721988.1:p.Asp186Tyr
XM_006721926.2:c.556G>T	XP_006721989.1:p.Asp186Tyr
XM_006721927.1:c.556G>T	XP_006721990.1:p.Asp186Tyr
XM_006721928.2:c.556G>T	XP_006721991.1:p.Asp186Tyr
XM_011524852.1:c.556G>T	XP_011523154.1:p.Asp186Tyr
XM_011524853.1:c.517G>T	XP_011523155.1:p.Asp173Tyr
XM_011524854.1:c.517G>T	XP_011523156.1:p.Asp173Tyr
XM_011524855.1:c.517G>T	XP_011523157.1:p.Asp173Tyr
XM_011524856.1:c.517G>T	XP_011523158.1:p.Asp173Tyr
XM_011524857.1:c.556G>T	XP_011523159.1:p.Asp186Tyr
NM_001042492.3:c.556G>T MANE Select	NP_001035957.1:p.Asp186Tyr
NM_001128147.3:c.556G>T	NP_001121619.1:p.Asp186Tyr