Canonical Allele Identifier: CA499233831

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29588738A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261720A>G , CM000679.2:g.31261720A>G	GRCh38
NC_000017.10:g.29588738A>G , CM000679.1:g.29588738A>G	GRCh37
NC_000017.9:g.26612864A>G	NCBI36
NG_009018.1:g.171744A>G , LRG_214:g.171744A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.389A>G	ENSP00000492721.2:p.Lys130Arg
ENST00000696138.1:c.4569A>G	ENSP00000512431.1:p.Lys1523=
ENST00000696140.1:n.693A>G
ENST00000696141.1:c.578A>G
ENST00000687863.1:n.1232A>G
ENST00000691014.1:c.4617A>G	ENSP00000510595.1:p.Lys1539=
ENST00000358273.9:c.4587A>G MANE Select	ENSP00000351015.4:p.Lys1529=
ENST00000356175.7:c.4524A>G	ENSP00000348498.3:p.Lys1508=
ENST00000358273.8:c.4587A>G	ENSP00000351015.4:p.Lys1529=
ENST00000456735.6:c.3522A>G	ENSP00000389907.2:p.Lys1174=
ENST00000466819.5:c.1103A>G
ENST00000479614.1:c.1040A>G
ENST00000493220.5:n.3060A>G
ENST00000579081.5:c.4626A>G	ENSP00000462408.1:p.Lys1542=
NM_000267.3:c.4524A>G , LRG_214t1:c.4524A>G	NP_000258.1:p.Lys1508=
NM_001042492.2:c.4587A>G , LRG_214t2:c.4587A>G	NP_001035957.1:p.Lys1529=
XM_005257983.1:c.4587A>G	XP_005258040.1:p.Lys1529=
XM_005257984.1:c.4524A>G	XP_005258041.1:p.Lys1508=
XM_006721922.1:c.4617A>G	XP_006721985.1:p.Lys1539=
XM_006721923.2:c.4578A>G	XP_006721986.1:p.Lys1526=
XM_006721924.1:c.4617A>G	XP_006721987.1:p.Lys1539=
XM_006721925.1:c.4554A>G	XP_006721988.1:p.Lys1518=
XM_006721926.2:c.4617A>G	XP_006721989.1:p.Lys1539=
XM_006721927.1:c.4617A>G	XP_006721990.1:p.Lys1539=
XM_006721928.2:c.4617A>G	XP_006721991.1:p.Lys1539=
XM_011524852.1:c.4614A>G	XP_011523154.1:p.Lys1538=
XM_011524853.1:c.4578A>G	XP_011523155.1:p.Lys1526=
XM_011524854.1:c.4578A>G	XP_011523156.1:p.Lys1526=
XM_011524855.1:c.4578A>G	XP_011523157.1:p.Lys1526=
XM_011524856.1:c.4578A>G	XP_011523158.1:p.Lys1526=
XM_011524857.1:c.4617A>G	XP_011523159.1:p.Lys1539=
NM_001042492.3:c.4587A>G MANE Select	NP_001035957.1:p.Lys1529=