Canonical Allele Identifier: CA399000131

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29588739G>T (hg19) ; chr17:g.31261721G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261721G>T , CM000679.2:g.31261721G>T	GRCh38
NC_000017.10:g.29588739G>T , CM000679.1:g.29588739G>T	GRCh37
NC_000017.9:g.26612865G>T	NCBI36
NG_009018.1:g.171745G>T , LRG_214:g.171745G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.390G>T	ENSP00000492721.2:p.Lys130Asn
ENST00000696138.1:c.4570G>T	ENSP00000512431.1:p.Ala1524Ser
ENST00000696140.1:n.694G>T
ENST00000696141.1:c.579G>T
ENST00000687863.1:n.1233G>T
ENST00000691014.1:c.4618G>T	ENSP00000510595.1:p.Ala1540Ser
ENST00000358273.9:c.4588G>T MANE Select	ENSP00000351015.4:p.Ala1530Ser
ENST00000356175.7:c.4525G>T	ENSP00000348498.3:p.Ala1509Ser
ENST00000358273.8:c.4588G>T	ENSP00000351015.4:p.Ala1530Ser
ENST00000456735.6:c.3523G>T	ENSP00000389907.2:p.Ala1175Ser
ENST00000466819.5:c.1104G>T
ENST00000479614.1:c.1041G>T
ENST00000493220.5:n.3061G>T
ENST00000579081.5:c.4627G>T	ENSP00000462408.1:p.Ala1543Ser
NM_000267.3:c.4525G>T , LRG_214t1:c.4525G>T	NP_000258.1:p.Ala1509Ser
NM_001042492.2:c.4588G>T , LRG_214t2:c.4588G>T	NP_001035957.1:p.Ala1530Ser
XM_005257983.1:c.4588G>T	XP_005258040.1:p.Ala1530Ser
XM_005257984.1:c.4525G>T	XP_005258041.1:p.Ala1509Ser
XM_006721922.1:c.4618G>T	XP_006721985.1:p.Ala1540Ser
XM_006721923.2:c.4579G>T	XP_006721986.1:p.Ala1527Ser
XM_006721924.1:c.4618G>T	XP_006721987.1:p.Ala1540Ser
XM_006721925.1:c.4555G>T	XP_006721988.1:p.Ala1519Ser
XM_006721926.2:c.4618G>T	XP_006721989.1:p.Ala1540Ser
XM_006721927.1:c.4618G>T	XP_006721990.1:p.Ala1540Ser
XM_006721928.2:c.4618G>T	XP_006721991.1:p.Ala1540Ser
XM_011524852.1:c.4615G>T	XP_011523154.1:p.Ala1539Ser
XM_011524853.1:c.4579G>T	XP_011523155.1:p.Ala1527Ser
XM_011524854.1:c.4579G>T	XP_011523156.1:p.Ala1527Ser
XM_011524855.1:c.4579G>T	XP_011523157.1:p.Ala1527Ser
XM_011524856.1:c.4579G>T	XP_011523158.1:p.Ala1527Ser
XM_011524857.1:c.4618G>T	XP_011523159.1:p.Ala1540Ser
NM_001042492.3:c.4588G>T MANE Select	NP_001035957.1:p.Ala1530Ser