Canonical Allele Identifier: CA399001186

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29592265A>C (hg19) ; chr17:g.31265247A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265247A>C , CM000679.2:g.31265247A>C	GRCh38
NC_000017.10:g.29592265A>C , CM000679.1:g.29592265A>C	GRCh37
NC_000017.9:g.26616391A>C	NCBI36
NG_009018.1:g.175271A>C , LRG_214:g.175271A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.545A>C	ENSP00000492721.2:n.545A>C
ENST00000696138.1:c.4725A>C	ENSP00000512431.1:p.Lys1575Asn
ENST00000696140.1:n.849A>C
ENST00000696141.1:c.734A>C
ENST00000687863.1:n.1388A>C
ENST00000691014.1:c.4773A>C	ENSP00000510595.1:p.Lys1591Asn
ENST00000358273.9:c.4743A>C MANE Select	ENSP00000351015.4:p.Lys1581Asn
ENST00000356175.7:c.4680A>C	ENSP00000348498.3:p.Lys1560Asn
ENST00000358273.8:c.4743A>C	ENSP00000351015.4:p.Lys1581Asn
ENST00000456735.6:c.3678A>C	ENSP00000389907.2:p.Lys1226Asn
ENST00000493220.5:n.3216A>C
ENST00000579081.5:c.4782A>C	ENSP00000462408.1:p.Lys1594Asn
NM_000267.3:c.4680A>C , LRG_214t1:c.4680A>C	NP_000258.1:p.Lys1560Asn
NM_001042492.2:c.4743A>C , LRG_214t2:c.4743A>C	NP_001035957.1:p.Lys1581Asn
XM_005257983.1:c.4743A>C	XP_005258040.1:p.Lys1581Asn
XM_005257984.1:c.4680A>C	XP_005258041.1:p.Lys1560Asn
XM_006721922.1:c.4773A>C	XP_006721985.1:p.Lys1591Asn
XM_006721923.2:c.4734A>C	XP_006721986.1:p.Lys1578Asn
XM_006721924.1:c.4773A>C	XP_006721987.1:p.Lys1591Asn
XM_006721925.1:c.4710A>C	XP_006721988.1:p.Lys1570Asn
XM_006721926.2:c.4773A>C	XP_006721989.1:p.Lys1591Asn
XM_006721927.1:c.4773A>C	XP_006721990.1:p.Lys1591Asn
XM_006721928.2:c.4773A>C	XP_006721991.1:p.Lys1591Asn
XM_011524852.1:c.4770A>C	XP_011523154.1:p.Lys1590Asn
XM_011524853.1:c.4734A>C	XP_011523155.1:p.Lys1578Asn
XM_011524854.1:c.4734A>C	XP_011523156.1:p.Lys1578Asn
XM_011524855.1:c.4734A>C	XP_011523157.1:p.Lys1578Asn
XM_011524856.1:c.4734A>C	XP_011523158.1:p.Lys1578Asn
XM_011524857.1:c.4773A>C	XP_011523159.1:p.Lys1591Asn
NM_001042492.3:c.4743A>C MANE Select	NP_001035957.1:p.Lys1581Asn