Canonical Allele Identifier: CA399010492

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29657499C>A (hg19) ; chr17:g.31330481C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330481C>A , CM000679.2:g.31330481C>A	GRCh38
NC_000017.10:g.29657499C>A , CM000679.1:g.29657499C>A	GRCh37
NC_000017.9:g.26681625C>A	NCBI36
NG_009018.1:g.240505C>A , LRG_214:g.240505C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1983C>A	ENSP00000492721.2:n.1983C>A
ENST00000696138.1:c.5777C>A	ENSP00000512431.1:p.Ser1926Tyr
ENST00000684826.1:c.359C>A	ENSP00000509994.1:p.Ser120Tyr
ENST00000687027.1:c.-50C>A	ENSP00000508715.1:n.-50C>A
ENST00000687863.1:n.2440C>A
ENST00000691014.1:c.5825C>A	ENSP00000510595.1:p.Ser1942Tyr
ENST00000693617.1:c.359C>A	ENSP00000510031.1:p.Ser120Tyr
ENST00000358273.9:c.5795C>A MANE Select	ENSP00000351015.4:p.Ser1932Tyr
ENST00000356175.7:c.5732C>A	ENSP00000348498.3:p.Ser1911Tyr
ENST00000358273.8:c.5795C>A	ENSP00000351015.4:p.Ser1932Tyr
ENST00000456735.6:c.4730C>A	ENSP00000389907.2:p.Ser1577Tyr
ENST00000479536.2:c.153C>A
ENST00000493220.5:n.4268C>A
ENST00000579081.5:c.5931C>A	ENSP00000462408.1:n.5931C>A
ENST00000581113.6:n.1112C>A
NM_000267.3:c.5732C>A , LRG_214t1:c.5732C>A	NP_000258.1:p.Ser1911Tyr
NM_001042492.2:c.5795C>A , LRG_214t2:c.5795C>A	NP_001035957.1:p.Ser1932Tyr
XM_005257983.1:c.5795C>A	XP_005258040.1:p.Ser1932Tyr
XM_005257984.1:c.5732C>A	XP_005258041.1:p.Ser1911Tyr
XM_006721922.1:c.5825C>A	XP_006721985.1:p.Ser1942Tyr
XM_006721923.2:c.5786C>A	XP_006721986.1:p.Ser1929Tyr
XM_006721924.1:c.5825C>A	XP_006721987.1:p.Ser1942Tyr
XM_006721925.1:c.5762C>A	XP_006721988.1:p.Ser1921Tyr
XM_006721926.2:c.5825C>A	XP_006721989.1:p.Ser1942Tyr
XM_006721927.1:c.5825C>A	XP_006721990.1:p.Ser1942Tyr
XM_011524852.1:c.5822C>A	XP_011523154.1:p.Ser1941Tyr
XM_011524853.1:c.5786C>A	XP_011523155.1:p.Ser1929Tyr
XM_011524854.1:c.5786C>A	XP_011523156.1:p.Ser1929Tyr
XM_011524855.1:c.5786C>A	XP_011523157.1:p.Ser1929Tyr
XM_011524856.1:c.5786C>A	XP_011523158.1:p.Ser1929Tyr
XM_011524857.1:c.5825C>A	XP_011523159.1:p.Ser1942Tyr
NM_001042492.3:c.5795C>A MANE Select	NP_001035957.1:p.Ser1932Tyr