Canonical Allele Identifier: CA399001366

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29592344T>A (hg19) ; chr17:g.31265326T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265326T>A , CM000679.2:g.31265326T>A	GRCh38
NC_000017.10:g.29592344T>A , CM000679.1:g.29592344T>A	GRCh37
NC_000017.9:g.26616470T>A	NCBI36
NG_009018.1:g.175350T>A , LRG_214:g.175350T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.624T>A	ENSP00000492721.2:n.624T>A
ENST00000696138.1:c.4804T>A	ENSP00000512431.1:p.Tyr1602Asn
ENST00000696140.1:n.928T>A
ENST00000696141.1:c.813T>A
ENST00000687863.1:n.1467T>A
ENST00000691014.1:c.4852T>A	ENSP00000510595.1:p.Tyr1618Asn
ENST00000358273.9:c.4822T>A MANE Select	ENSP00000351015.4:p.Tyr1608Asn
ENST00000356175.7:c.4759T>A	ENSP00000348498.3:p.Tyr1587Asn
ENST00000358273.8:c.4822T>A	ENSP00000351015.4:p.Tyr1608Asn
ENST00000456735.6:c.3757T>A	ENSP00000389907.2:p.Tyr1253Asn
ENST00000493220.5:n.3295T>A
ENST00000579081.5:c.4861T>A	ENSP00000462408.1:p.Tyr1621Asn
NM_000267.3:c.4759T>A , LRG_214t1:c.4759T>A	NP_000258.1:p.Tyr1587Asn
NM_001042492.2:c.4822T>A , LRG_214t2:c.4822T>A	NP_001035957.1:p.Tyr1608Asn
XM_005257983.1:c.4822T>A	XP_005258040.1:p.Tyr1608Asn
XM_005257984.1:c.4759T>A	XP_005258041.1:p.Tyr1587Asn
XM_006721922.1:c.4852T>A	XP_006721985.1:p.Tyr1618Asn
XM_006721923.2:c.4813T>A	XP_006721986.1:p.Tyr1605Asn
XM_006721924.1:c.4852T>A	XP_006721987.1:p.Tyr1618Asn
XM_006721925.1:c.4789T>A	XP_006721988.1:p.Tyr1597Asn
XM_006721926.2:c.4852T>A	XP_006721989.1:p.Tyr1618Asn
XM_006721927.1:c.4852T>A	XP_006721990.1:p.Tyr1618Asn
XM_006721928.2:c.4852T>A	XP_006721991.1:p.Tyr1618Asn
XM_011524852.1:c.4849T>A	XP_011523154.1:p.Tyr1617Asn
XM_011524853.1:c.4813T>A	XP_011523155.1:p.Tyr1605Asn
XM_011524854.1:c.4813T>A	XP_011523156.1:p.Tyr1605Asn
XM_011524855.1:c.4813T>A	XP_011523157.1:p.Tyr1605Asn
XM_011524856.1:c.4813T>A	XP_011523158.1:p.Tyr1605Asn
XM_011524857.1:c.4852T>A	XP_011523159.1:p.Tyr1618Asn
NM_001042492.3:c.4822T>A MANE Select	NP_001035957.1:p.Tyr1608Asn