Canonical Allele Identifier: CA399000429

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29588817G>T (hg19) ; chr17:g.31261799G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261799G>T , CM000679.2:g.31261799G>T	GRCh38
NC_000017.10:g.29588817G>T , CM000679.1:g.29588817G>T	GRCh37
NC_000017.9:g.26612943G>T	NCBI36
NG_009018.1:g.171823G>T , LRG_214:g.171823G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.468G>T	ENSP00000492721.2:p.Gln156His
ENST00000696138.1:c.4648G>T	ENSP00000512431.1:p.Asp1550Tyr
ENST00000696140.1:n.772G>T
ENST00000696141.1:c.657G>T
ENST00000687863.1:n.1311G>T
ENST00000691014.1:c.4696G>T	ENSP00000510595.1:p.Asp1566Tyr
ENST00000358273.9:c.4666G>T MANE Select	ENSP00000351015.4:p.Asp1556Tyr
ENST00000356175.7:c.4603G>T	ENSP00000348498.3:p.Asp1535Tyr
ENST00000358273.8:c.4666G>T	ENSP00000351015.4:p.Asp1556Tyr
ENST00000456735.6:c.3601G>T	ENSP00000389907.2:p.Asp1201Tyr
ENST00000493220.5:n.3139G>T
ENST00000579081.5:c.4705G>T	ENSP00000462408.1:p.Asp1569Tyr
NM_000267.3:c.4603G>T , LRG_214t1:c.4603G>T	NP_000258.1:p.Asp1535Tyr
NM_001042492.2:c.4666G>T , LRG_214t2:c.4666G>T	NP_001035957.1:p.Asp1556Tyr
XM_005257983.1:c.4666G>T	XP_005258040.1:p.Asp1556Tyr
XM_005257984.1:c.4603G>T	XP_005258041.1:p.Asp1535Tyr
XM_006721922.1:c.4696G>T	XP_006721985.1:p.Asp1566Tyr
XM_006721923.2:c.4657G>T	XP_006721986.1:p.Asp1553Tyr
XM_006721924.1:c.4696G>T	XP_006721987.1:p.Asp1566Tyr
XM_006721925.1:c.4633G>T	XP_006721988.1:p.Asp1545Tyr
XM_006721926.2:c.4696G>T	XP_006721989.1:p.Asp1566Tyr
XM_006721927.1:c.4696G>T	XP_006721990.1:p.Asp1566Tyr
XM_006721928.2:c.4696G>T	XP_006721991.1:p.Asp1566Tyr
XM_011524852.1:c.4693G>T	XP_011523154.1:p.Asp1565Tyr
XM_011524853.1:c.4657G>T	XP_011523155.1:p.Asp1553Tyr
XM_011524854.1:c.4657G>T	XP_011523156.1:p.Asp1553Tyr
XM_011524855.1:c.4657G>T	XP_011523157.1:p.Asp1553Tyr
XM_011524856.1:c.4657G>T	XP_011523158.1:p.Asp1553Tyr
XM_011524857.1:c.4696G>T	XP_011523159.1:p.Asp1566Tyr
NM_001042492.3:c.4666G>T MANE Select	NP_001035957.1:p.Asp1556Tyr