Canonical Allele Identifier: CA399001357

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29592340T>A (hg19) ; chr17:g.31265322T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265322T>A , CM000679.2:g.31265322T>A	GRCh38
NC_000017.10:g.29592340T>A , CM000679.1:g.29592340T>A	GRCh37
NC_000017.9:g.26616466T>A	NCBI36
NG_009018.1:g.175346T>A , LRG_214:g.175346T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.620T>A	ENSP00000492721.2:n.620T>A
ENST00000696138.1:c.4800T>A	ENSP00000512431.1:p.Phe1600Leu
ENST00000696140.1:n.924T>A
ENST00000696141.1:c.809T>A
ENST00000687863.1:n.1463T>A
ENST00000691014.1:c.4848T>A	ENSP00000510595.1:p.Phe1616Leu
ENST00000358273.9:c.4818T>A MANE Select	ENSP00000351015.4:p.Phe1606Leu
ENST00000356175.7:c.4755T>A	ENSP00000348498.3:p.Phe1585Leu
ENST00000358273.8:c.4818T>A	ENSP00000351015.4:p.Phe1606Leu
ENST00000456735.6:c.3753T>A	ENSP00000389907.2:p.Phe1251Leu
ENST00000493220.5:n.3291T>A
ENST00000579081.5:c.4857T>A	ENSP00000462408.1:p.Phe1619Leu
NM_000267.3:c.4755T>A , LRG_214t1:c.4755T>A	NP_000258.1:p.Phe1585Leu
NM_001042492.2:c.4818T>A , LRG_214t2:c.4818T>A	NP_001035957.1:p.Phe1606Leu
XM_005257983.1:c.4818T>A	XP_005258040.1:p.Phe1606Leu
XM_005257984.1:c.4755T>A	XP_005258041.1:p.Phe1585Leu
XM_006721922.1:c.4848T>A	XP_006721985.1:p.Phe1616Leu
XM_006721923.2:c.4809T>A	XP_006721986.1:p.Phe1603Leu
XM_006721924.1:c.4848T>A	XP_006721987.1:p.Phe1616Leu
XM_006721925.1:c.4785T>A	XP_006721988.1:p.Phe1595Leu
XM_006721926.2:c.4848T>A	XP_006721989.1:p.Phe1616Leu
XM_006721927.1:c.4848T>A	XP_006721990.1:p.Phe1616Leu
XM_006721928.2:c.4848T>A	XP_006721991.1:p.Phe1616Leu
XM_011524852.1:c.4845T>A	XP_011523154.1:p.Phe1615Leu
XM_011524853.1:c.4809T>A	XP_011523155.1:p.Phe1603Leu
XM_011524854.1:c.4809T>A	XP_011523156.1:p.Phe1603Leu
XM_011524855.1:c.4809T>A	XP_011523157.1:p.Phe1603Leu
XM_011524856.1:c.4809T>A	XP_011523158.1:p.Phe1603Leu
XM_011524857.1:c.4848T>A	XP_011523159.1:p.Phe1616Leu
NM_001042492.3:c.4818T>A MANE Select	NP_001035957.1:p.Phe1606Leu