Canonical Allele Identifier: CA10580381

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31337526A>G , CM000679.2:g.31337526A>G	GRCh38
NC_000017.10:g.29664544A>G , CM000679.1:g.29664544A>G	GRCh37
NC_000017.9:g.26688670A>G	NCBI36
NG_009018.1:g.247550A>G , LRG_214:g.247550A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.6586A>G MANE Select	NP_001035957.1:p.Thr2196Ala
ENST00000358273.9:c.6586A>G MANE Select	ENSP00000351015.4:p.Thr2196Ala
NM_000267.3:c.6523A>G , LRG_214t1:c.6523A>G	NP_000258.1:p.Thr2175Ala
NM_001042492.2:c.6586A>G , LRG_214t2:c.6586A>G	NP_001035957.1:p.Thr2196Ala
ENST00000356175.7:c.6523A>G	ENSP00000348498.3:p.Thr2175Ala
ENST00000358273.8:c.6586A>G	ENSP00000351015.4:p.Thr2196Ala
ENST00000456735.6:c.5521A>G	ENSP00000389907.2:p.Thr1841Ala
ENST00000579081.5:c.6722A>G	ENSP00000462408.1:n.6722A>G
ENST00000684826.1:c.1150A>G	ENSP00000509994.1:p.Thr384Ala
ENST00000684998.1:n.1464A>G
ENST00000687027.1:c.742A>G	ENSP00000508715.1:p.Thr248Ala
ENST00000687863.1:n.3231A>G
ENST00000691014.1:c.6616A>G	ENSP00000510595.1:p.Thr2206Ala
ENST00000693617.1:c.1150A>G	ENSP00000510031.1:p.Thr384Ala
ENST00000696138.1:c.6568A>G	ENSP00000512431.1:p.Thr2190Ala
XM_005257983.1:c.6586A>G	XP_005258040.1:p.Thr2196Ala
XM_005257984.1:c.6523A>G	XP_005258041.1:p.Thr2175Ala
XM_006721922.1:c.6616A>G	XP_006721985.1:p.Thr2206Ala
XM_006721923.2:c.6577A>G	XP_006721986.1:p.Thr2193Ala
XM_006721924.1:c.6616A>G	XP_006721987.1:p.Thr2206Ala
XM_006721925.1:c.6553A>G	XP_006721988.1:p.Thr2185Ala
XM_006721926.2:c.6616A>G	XP_006721989.1:p.Thr2206Ala
XM_006721927.1:c.6616A>G	XP_006721990.1:p.Thr2206Ala
XM_011524852.1:c.6613A>G	XP_011523154.1:p.Thr2205Ala
XM_011524853.1:c.6577A>G	XP_011523155.1:p.Thr2193Ala
XM_011524854.1:c.6577A>G	XP_011523156.1:p.Thr2193Ala
XM_011524855.1:c.6577A>G	XP_011523157.1:p.Thr2193Ala
XM_011524856.1:c.6577A>G	XP_011523158.1:p.Thr2193Ala
XM_011524857.1:c.6616A>G	XP_011523159.1:p.Thr2206Ala