Canonical Allele Identifier: CA399000420

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29588815C>A (hg19) ; chr17:g.31261797C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261797C>A , CM000679.2:g.31261797C>A	GRCh38
NC_000017.10:g.29588815C>A , CM000679.1:g.29588815C>A	GRCh37
NC_000017.9:g.26612941C>A	NCBI36
NG_009018.1:g.171821C>A , LRG_214:g.171821C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.466C>A	ENSP00000492721.2:p.Gln156Lys
ENST00000696138.1:c.4646C>A	ENSP00000512431.1:p.Ala1549Glu
ENST00000696140.1:n.770C>A
ENST00000696141.1:c.655C>A
ENST00000687863.1:n.1309C>A
ENST00000691014.1:c.4694C>A	ENSP00000510595.1:p.Ala1565Glu
ENST00000358273.9:c.4664C>A MANE Select	ENSP00000351015.4:p.Ala1555Glu
ENST00000356175.7:c.4601C>A	ENSP00000348498.3:p.Ala1534Glu
ENST00000358273.8:c.4664C>A	ENSP00000351015.4:p.Ala1555Glu
ENST00000456735.6:c.3599C>A	ENSP00000389907.2:p.Ala1200Glu
ENST00000493220.5:n.3137C>A
ENST00000579081.5:c.4703C>A	ENSP00000462408.1:p.Ala1568Glu
NM_000267.3:c.4601C>A , LRG_214t1:c.4601C>A	NP_000258.1:p.Ala1534Glu
NM_001042492.2:c.4664C>A , LRG_214t2:c.4664C>A	NP_001035957.1:p.Ala1555Glu
XM_005257983.1:c.4664C>A	XP_005258040.1:p.Ala1555Glu
XM_005257984.1:c.4601C>A	XP_005258041.1:p.Ala1534Glu
XM_006721922.1:c.4694C>A	XP_006721985.1:p.Ala1565Glu
XM_006721923.2:c.4655C>A	XP_006721986.1:p.Ala1552Glu
XM_006721924.1:c.4694C>A	XP_006721987.1:p.Ala1565Glu
XM_006721925.1:c.4631C>A	XP_006721988.1:p.Ala1544Glu
XM_006721926.2:c.4694C>A	XP_006721989.1:p.Ala1565Glu
XM_006721927.1:c.4694C>A	XP_006721990.1:p.Ala1565Glu
XM_006721928.2:c.4694C>A	XP_006721991.1:p.Ala1565Glu
XM_011524852.1:c.4691C>A	XP_011523154.1:p.Ala1564Glu
XM_011524853.1:c.4655C>A	XP_011523155.1:p.Ala1552Glu
XM_011524854.1:c.4655C>A	XP_011523156.1:p.Ala1552Glu
XM_011524855.1:c.4655C>A	XP_011523157.1:p.Ala1552Glu
XM_011524856.1:c.4655C>A	XP_011523158.1:p.Ala1552Glu
XM_011524857.1:c.4694C>A	XP_011523159.1:p.Ala1565Glu
NM_001042492.3:c.4664C>A MANE Select	NP_001035957.1:p.Ala1555Glu