Canonical Allele Identifier: CA10577035

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31327535C>T , CM000679.2:g.31327535C>T	GRCh38
NC_000017.10:g.29654553C>T , CM000679.1:g.29654553C>T	GRCh37
NC_000017.9:g.26678679C>T	NCBI36
NG_009018.1:g.237559C>T , LRG_214:g.237559C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.5305C>T MANE Select	NP_001035957.1:p.Arg1769Ter
ENST00000358273.9:c.5305C>T MANE Select	ENSP00000351015.4:p.Arg1769Ter
NM_000267.3:c.5242C>T , LRG_214t1:c.5242C>T	NP_000258.1:p.Arg1748Ter
NM_001042492.2:c.5305C>T , LRG_214t2:c.5305C>T	NP_001035957.1:p.Arg1769Ter
ENST00000356175.7:c.5242C>T	ENSP00000348498.3:p.Arg1748Ter
ENST00000358273.8:c.5305C>T	ENSP00000351015.4:p.Arg1769Ter
ENST00000456735.6:c.4240C>T	ENSP00000389907.2:p.Arg1414Ter
ENST00000493220.5:n.3778C>T
ENST00000579081.5:c.5441C>T	ENSP00000462408.1:n.5441C>T
ENST00000581113.6:n.622C>T
ENST00000581113.7:c.1493C>T	ENSP00000492721.2:n.1493C>T
ENST00000684826.1:c.-132C>T	ENSP00000509994.1:n.-132C>T
ENST00000687027.1:c.-236+1283C>T	ENSP00000508715.1:n.-236+1283C>T
ENST00000687863.1:n.1950C>T
ENST00000691014.1:c.5335C>T	ENSP00000510595.1:p.Arg1779Ter
ENST00000693617.1:c.-132C>T	ENSP00000510031.1:n.-132C>T
ENST00000696138.1:c.5287C>T	ENSP00000512431.1:p.Arg1763Ter
XM_005257983.1:c.5305C>T	XP_005258040.1:p.Arg1769Ter
XM_005257984.1:c.5242C>T	XP_005258041.1:p.Arg1748Ter
XM_006721922.1:c.5335C>T	XP_006721985.1:p.Arg1779Ter
XM_006721923.2:c.5296C>T	XP_006721986.1:p.Arg1766Ter
XM_006721924.1:c.5335C>T	XP_006721987.1:p.Arg1779Ter
XM_006721925.1:c.5272C>T	XP_006721988.1:p.Arg1758Ter
XM_006721926.2:c.5335C>T	XP_006721989.1:p.Arg1779Ter
XM_006721927.1:c.5335C>T	XP_006721990.1:p.Arg1779Ter
XM_011524852.1:c.5332C>T	XP_011523154.1:p.Arg1778Ter
XM_011524853.1:c.5296C>T	XP_011523155.1:p.Arg1766Ter
XM_011524854.1:c.5296C>T	XP_011523156.1:p.Arg1766Ter
XM_011524855.1:c.5296C>T	XP_011523157.1:p.Arg1766Ter
XM_011524856.1:c.5296C>T	XP_011523158.1:p.Arg1766Ter
XM_011524857.1:c.5335C>T	XP_011523159.1:p.Arg1779Ter