Canonical Allele Identifier: CA10648998

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31352324C>T , CM000679.2:g.31352324C>T	GRCh38
NC_000017.10:g.29679342C>T , CM000679.1:g.29679342C>T	GRCh37
NC_000017.9:g.26703468C>T	NCBI36
NG_009018.1:g.262348C>T , LRG_214:g.262348C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.7525C>T MANE Select	NP_001035957.1:p.Pro2509Ser
ENST00000358273.9:c.7525C>T MANE Select	ENSP00000351015.4:p.Pro2509Ser
NM_000267.3:c.7462C>T , LRG_214t1:c.7462C>T	NP_000258.1:p.Pro2488Ser
NM_001042492.2:c.7525C>T , LRG_214t2:c.7525C>T	NP_001035957.1:p.Pro2509Ser
ENST00000356175.7:c.7462C>T	ENSP00000348498.3:p.Pro2488Ser
ENST00000358273.8:c.7525C>T	ENSP00000351015.4:p.Pro2509Ser
ENST00000456735.6:c.6460C>T	ENSP00000389907.2:p.Pro2154Ser
ENST00000471572.6:c.908C>T
ENST00000579081.5:c.7661C>T	ENSP00000462408.1:n.7661C>T
ENST00000581790.5:c.600+2006C>T
ENST00000684826.1:c.2089C>T	ENSP00000509994.1:p.Pro697Ser
ENST00000687027.1:c.1681C>T	ENSP00000508715.1:p.Pro561Ser
ENST00000687863.1:n.4170C>T
ENST00000689464.1:c.575C>T
ENST00000691014.1:c.7555C>T	ENSP00000510595.1:p.Pro2519Ser
ENST00000693617.1:c.2089C>T	ENSP00000510031.1:p.Pro697Ser
ENST00000696138.1:c.7507C>T	ENSP00000512431.1:p.Pro2503Ser
XM_005257983.1:c.7525C>T	XP_005258040.1:p.Pro2509Ser
XM_005257984.1:c.7462C>T	XP_005258041.1:p.Pro2488Ser
XM_006721922.1:c.7555C>T	XP_006721985.1:p.Pro2519Ser
XM_006721923.2:c.7516C>T	XP_006721986.1:p.Pro2506Ser
XM_006721924.1:c.7555C>T	XP_006721987.1:p.Pro2519Ser
XM_006721925.1:c.7492C>T	XP_006721988.1:p.Pro2498Ser
XM_006721926.2:c.7555C>T	XP_006721989.1:p.Pro2519Ser
XM_006721927.1:c.7555C>T	XP_006721990.1:p.Pro2519Ser
XM_011524852.1:c.7552C>T	XP_011523154.1:p.Pro2518Ser
XM_011524853.1:c.7516C>T	XP_011523155.1:p.Pro2506Ser
XM_011524854.1:c.7516C>T	XP_011523156.1:p.Pro2506Ser
XM_011524855.1:c.7516C>T	XP_011523157.1:p.Pro2506Ser
XM_011524856.1:c.7516C>T	XP_011523158.1:p.Pro2506Ser
XM_011524857.1:c.7555C>T	XP_011523159.1:p.Pro2519Ser