Canonical Allele Identifier: CA399010488

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29657497T>G (hg19) ; chr17:g.31330479T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330479T>G , CM000679.2:g.31330479T>G	GRCh38
NC_000017.10:g.29657497T>G , CM000679.1:g.29657497T>G	GRCh37
NC_000017.9:g.26681623T>G	NCBI36
NG_009018.1:g.240503T>G , LRG_214:g.240503T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1981T>G	ENSP00000492721.2:n.1981T>G
ENST00000696138.1:c.5775T>G	ENSP00000512431.1:p.Ile1925Met
ENST00000684826.1:c.357T>G	ENSP00000509994.1:p.Ile119Met
ENST00000687027.1:c.-52T>G	ENSP00000508715.1:n.-52T>G
ENST00000687863.1:n.2438T>G
ENST00000691014.1:c.5823T>G	ENSP00000510595.1:p.Ile1941Met
ENST00000693617.1:c.357T>G	ENSP00000510031.1:p.Ile119Met
ENST00000358273.9:c.5793T>G MANE Select	ENSP00000351015.4:p.Ile1931Met
ENST00000356175.7:c.5730T>G	ENSP00000348498.3:p.Ile1910Met
ENST00000358273.8:c.5793T>G	ENSP00000351015.4:p.Ile1931Met
ENST00000456735.6:c.4728T>G	ENSP00000389907.2:p.Ile1576Met
ENST00000479536.2:c.151T>G
ENST00000493220.5:n.4266T>G
ENST00000579081.5:c.5929T>G	ENSP00000462408.1:n.5929T>G
ENST00000581113.6:n.1110T>G
NM_000267.3:c.5730T>G , LRG_214t1:c.5730T>G	NP_000258.1:p.Ile1910Met
NM_001042492.2:c.5793T>G , LRG_214t2:c.5793T>G	NP_001035957.1:p.Ile1931Met
XM_005257983.1:c.5793T>G	XP_005258040.1:p.Ile1931Met
XM_005257984.1:c.5730T>G	XP_005258041.1:p.Ile1910Met
XM_006721922.1:c.5823T>G	XP_006721985.1:p.Ile1941Met
XM_006721923.2:c.5784T>G	XP_006721986.1:p.Ile1928Met
XM_006721924.1:c.5823T>G	XP_006721987.1:p.Ile1941Met
XM_006721925.1:c.5760T>G	XP_006721988.1:p.Ile1920Met
XM_006721926.2:c.5823T>G	XP_006721989.1:p.Ile1941Met
XM_006721927.1:c.5823T>G	XP_006721990.1:p.Ile1941Met
XM_011524852.1:c.5820T>G	XP_011523154.1:p.Ile1940Met
XM_011524853.1:c.5784T>G	XP_011523155.1:p.Ile1928Met
XM_011524854.1:c.5784T>G	XP_011523156.1:p.Ile1928Met
XM_011524855.1:c.5784T>G	XP_011523157.1:p.Ile1928Met
XM_011524856.1:c.5784T>G	XP_011523158.1:p.Ile1928Met
XM_011524857.1:c.5823T>G	XP_011523159.1:p.Ile1941Met
NM_001042492.3:c.5793T>G MANE Select	NP_001035957.1:p.Ile1931Met