Canonical Allele Identifier: CA10580320

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31260442G>A , CM000679.2:g.31260442G>A	GRCh38
NC_000017.10:g.29587460G>A , CM000679.1:g.29587460G>A	GRCh37
NC_000017.9:g.26611586G>A	NCBI36
NG_009018.1:g.170466G>A , LRG_214:g.170466G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.4504G>A MANE Select	NP_001035957.1:p.Gly1502Ser
ENST00000358273.9:c.4504G>A MANE Select	ENSP00000351015.4:p.Gly1502Ser
NM_000267.3:c.4441G>A , LRG_214t1:c.4441G>A	NP_000258.1:p.Gly1481Ser
NM_001042492.2:c.4504G>A , LRG_214t2:c.4504G>A	NP_001035957.1:p.Gly1502Ser
ENST00000356175.7:c.4441G>A	ENSP00000348498.3:p.Gly1481Ser
ENST00000358273.8:c.4504G>A	ENSP00000351015.4:p.Gly1502Ser
ENST00000456735.6:c.3439G>A	ENSP00000389907.2:p.Gly1147Ser
ENST00000466819.5:c.1020G>A
ENST00000479614.1:c.957G>A
ENST00000493220.5:n.2977G>A
ENST00000579081.5:c.4543G>A	ENSP00000462408.1:p.Gly1515Ser
ENST00000581113.7:c.292G>A	ENSP00000492721.2:p.Gly98Ser
ENST00000687863.1:n.1149G>A
ENST00000691014.1:c.4534G>A	ENSP00000510595.1:p.Gly1512Ser
ENST00000691649.1:n.1715G>A
ENST00000696138.1:c.4486G>A	ENSP00000512431.1:p.Gly1496Ser
ENST00000696140.1:n.610G>A
ENST00000696141.1:c.495G>A
XM_005257983.1:c.4504G>A	XP_005258040.1:p.Gly1502Ser
XM_005257984.1:c.4441G>A	XP_005258041.1:p.Gly1481Ser
XM_006721922.1:c.4534G>A	XP_006721985.1:p.Gly1512Ser
XM_006721923.2:c.4495G>A	XP_006721986.1:p.Gly1499Ser
XM_006721924.1:c.4534G>A	XP_006721987.1:p.Gly1512Ser
XM_006721925.1:c.4471G>A	XP_006721988.1:p.Gly1491Ser
XM_006721926.2:c.4534G>A	XP_006721989.1:p.Gly1512Ser
XM_006721927.1:c.4534G>A	XP_006721990.1:p.Gly1512Ser
XM_006721928.2:c.4534G>A	XP_006721991.1:p.Gly1512Ser
XM_011524852.1:c.4531G>A	XP_011523154.1:p.Gly1511Ser
XM_011524853.1:c.4495G>A	XP_011523155.1:p.Gly1499Ser
XM_011524854.1:c.4495G>A	XP_011523156.1:p.Gly1499Ser
XM_011524855.1:c.4495G>A	XP_011523157.1:p.Gly1499Ser
XM_011524856.1:c.4495G>A	XP_011523158.1:p.Gly1499Ser
XM_011524857.1:c.4534G>A	XP_011523159.1:p.Gly1512Ser