Canonical Allele Identifier: CA8487694

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357350C>T , CM000679.2:g.31357350C>T	GRCh38
NC_000017.10:g.29684368C>T , CM000679.1:g.29684368C>T	GRCh37
NC_000017.9:g.26708494C>T	NCBI36
NG_009018.1:g.267374C>T , LRG_214:g.267374C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.7951C>T MANE Select	NP_001035957.1:p.Pro2651Ser
ENST00000358273.9:c.7951C>T MANE Select	ENSP00000351015.4:p.Pro2651Ser
NM_000267.3:c.7888C>T , LRG_214t1:c.7888C>T	NP_000258.1:p.Pro2630Ser
NM_001042492.2:c.7951C>T , LRG_214t2:c.7951C>T	NP_001035957.1:p.Pro2651Ser
ENST00000356175.7:c.7888C>T	ENSP00000348498.3:p.Pro2630Ser
ENST00000358273.8:c.7951C>T	ENSP00000351015.4:p.Pro2651Ser
ENST00000456735.6:c.6886C>T	ENSP00000389907.2:p.Pro2296Ser
ENST00000471572.6:c.1334C>T
ENST00000577967.1:n.1547C>T
ENST00000579081.5:c.8087C>T	ENSP00000462408.1:n.8087C>T
ENST00000581790.5:c.936C>T
ENST00000684826.1:c.2515C>T	ENSP00000509994.1:p.Pro839Ser
ENST00000687027.1:c.2107C>T	ENSP00000508715.1:p.Pro703Ser
ENST00000687863.1:n.4596C>T
ENST00000689464.1:c.1001C>T
ENST00000691014.1:c.7981C>T	ENSP00000510595.1:p.Pro2661Ser
ENST00000693617.1:c.2515C>T	ENSP00000510031.1:p.Pro839Ser
ENST00000696138.1:c.7933C>T	ENSP00000512431.1:p.Pro2645Ser
XM_005257983.1:c.7951C>T	XP_005258040.1:p.Pro2651Ser
XM_005257984.1:c.7888C>T	XP_005258041.1:p.Pro2630Ser
XM_006721922.1:c.7981C>T	XP_006721985.1:p.Pro2661Ser
XM_006721923.2:c.7942C>T	XP_006721986.1:p.Pro2648Ser
XM_006721924.1:c.7981C>T	XP_006721987.1:p.Pro2661Ser
XM_006721925.1:c.7918C>T	XP_006721988.1:p.Pro2640Ser
XM_006721926.2:c.7981C>T	XP_006721989.1:p.Pro2661Ser
XM_006721927.1:c.7981C>T	XP_006721990.1:p.Pro2661Ser
XM_011524852.1:c.7978C>T	XP_011523154.1:p.Pro2660Ser
XM_011524853.1:c.7942C>T	XP_011523155.1:p.Pro2648Ser
XM_011524854.1:c.7942C>T	XP_011523156.1:p.Pro2648Ser
XM_011524855.1:c.7942C>T	XP_011523157.1:p.Pro2648Ser
XM_011524856.1:c.7942C>T	XP_011523158.1:p.Pro2648Ser
XM_011524857.1:c.7858C>T	XP_011523159.1:p.Pro2620Ser