Canonical Allele Identifier: CA190557

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31352327A>G , CM000679.2:g.31352327A>G	GRCh38
NC_000017.10:g.29679345A>G , CM000679.1:g.29679345A>G	GRCh37
NC_000017.9:g.26703471A>G	NCBI36
NG_009018.1:g.262351A>G , LRG_214:g.262351A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.7528A>G MANE Select	NP_001035957.1:p.Thr2510Ala
ENST00000358273.9:c.7528A>G MANE Select	ENSP00000351015.4:p.Thr2510Ala
NM_000267.3:c.7465A>G , LRG_214t1:c.7465A>G	NP_000258.1:p.Thr2489Ala
NM_001042492.2:c.7528A>G , LRG_214t2:c.7528A>G	NP_001035957.1:p.Thr2510Ala
ENST00000356175.7:c.7465A>G	ENSP00000348498.3:p.Thr2489Ala
ENST00000358273.8:c.7528A>G	ENSP00000351015.4:p.Thr2510Ala
ENST00000456735.6:c.6463A>G	ENSP00000389907.2:p.Thr2155Ala
ENST00000471572.6:c.911A>G
ENST00000579081.5:c.7664A>G	ENSP00000462408.1:n.7664A>G
ENST00000581790.5:c.600+2009A>G
ENST00000684826.1:c.2092A>G	ENSP00000509994.1:p.Thr698Ala
ENST00000687027.1:c.1684A>G	ENSP00000508715.1:p.Thr562Ala
ENST00000687863.1:n.4173A>G
ENST00000689464.1:c.578A>G
ENST00000691014.1:c.7558A>G	ENSP00000510595.1:p.Thr2520Ala
ENST00000693617.1:c.2092A>G	ENSP00000510031.1:p.Thr698Ala
ENST00000696138.1:c.7510A>G	ENSP00000512431.1:p.Thr2504Ala
XM_005257983.1:c.7528A>G	XP_005258040.1:p.Thr2510Ala
XM_005257984.1:c.7465A>G	XP_005258041.1:p.Thr2489Ala
XM_006721922.1:c.7558A>G	XP_006721985.1:p.Thr2520Ala
XM_006721923.2:c.7519A>G	XP_006721986.1:p.Thr2507Ala
XM_006721924.1:c.7558A>G	XP_006721987.1:p.Thr2520Ala
XM_006721925.1:c.7495A>G	XP_006721988.1:p.Thr2499Ala
XM_006721926.2:c.7558A>G	XP_006721989.1:p.Thr2520Ala
XM_006721927.1:c.7558A>G	XP_006721990.1:p.Thr2520Ala
XM_011524852.1:c.7555A>G	XP_011523154.1:p.Thr2519Ala
XM_011524853.1:c.7519A>G	XP_011523155.1:p.Thr2507Ala
XM_011524854.1:c.7519A>G	XP_011523156.1:p.Thr2507Ala
XM_011524855.1:c.7519A>G	XP_011523157.1:p.Thr2507Ala
XM_011524856.1:c.7519A>G	XP_011523158.1:p.Thr2507Ala
XM_011524857.1:c.7558A>G	XP_011523159.1:p.Thr2520Ala