Canonical Allele Identifier: CA399017545

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31352312G>A , CM000679.2:g.31352312G>A	GRCh38
NC_000017.10:g.29679330G>A , CM000679.1:g.29679330G>A	GRCh37
NC_000017.9:g.26703456G>A	NCBI36
NG_009018.1:g.262336G>A , LRG_214:g.262336G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.7513G>A MANE Select	NP_001035957.1:p.Ala2505Thr
ENST00000358273.9:c.7513G>A MANE Select	ENSP00000351015.4:p.Ala2505Thr
NM_000267.3:c.7450G>A , LRG_214t1:c.7450G>A	NP_000258.1:p.Ala2484Thr
NM_001042492.2:c.7513G>A , LRG_214t2:c.7513G>A	NP_001035957.1:p.Ala2505Thr
ENST00000356175.7:c.7450G>A	ENSP00000348498.3:p.Ala2484Thr
ENST00000358273.8:c.7513G>A	ENSP00000351015.4:p.Ala2505Thr
ENST00000456735.6:c.6448G>A	ENSP00000389907.2:p.Ala2150Thr
ENST00000471572.6:c.896G>A
ENST00000579081.5:c.7649G>A	ENSP00000462408.1:n.7649G>A
ENST00000581790.5:c.600+1994G>A
ENST00000684826.1:c.2077G>A	ENSP00000509994.1:p.Ala693Thr
ENST00000687027.1:c.1669G>A	ENSP00000508715.1:p.Ala557Thr
ENST00000687863.1:n.4158G>A
ENST00000689464.1:c.563G>A
ENST00000691014.1:c.7543G>A	ENSP00000510595.1:p.Ala2515Thr
ENST00000693617.1:c.2077G>A	ENSP00000510031.1:p.Ala693Thr
ENST00000696138.1:c.7495G>A	ENSP00000512431.1:p.Ala2499Thr
XM_005257983.1:c.7513G>A	XP_005258040.1:p.Ala2505Thr
XM_005257984.1:c.7450G>A	XP_005258041.1:p.Ala2484Thr
XM_006721922.1:c.7543G>A	XP_006721985.1:p.Ala2515Thr
XM_006721923.2:c.7504G>A	XP_006721986.1:p.Ala2502Thr
XM_006721924.1:c.7543G>A	XP_006721987.1:p.Ala2515Thr
XM_006721925.1:c.7480G>A	XP_006721988.1:p.Ala2494Thr
XM_006721926.2:c.7543G>A	XP_006721989.1:p.Ala2515Thr
XM_006721927.1:c.7543G>A	XP_006721990.1:p.Ala2515Thr
XM_011524852.1:c.7540G>A	XP_011523154.1:p.Ala2514Thr
XM_011524853.1:c.7504G>A	XP_011523155.1:p.Ala2502Thr
XM_011524854.1:c.7504G>A	XP_011523156.1:p.Ala2502Thr
XM_011524855.1:c.7504G>A	XP_011523157.1:p.Ala2502Thr
XM_011524856.1:c.7504G>A	XP_011523158.1:p.Ala2502Thr
XM_011524857.1:c.7543G>A	XP_011523159.1:p.Ala2515Thr