Canonical Allele Identifier: CA499233554

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29657483T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330465T>C , CM000679.2:g.31330465T>C	GRCh38
NC_000017.10:g.29657483T>C , CM000679.1:g.29657483T>C	GRCh37
NC_000017.9:g.26681609T>C	NCBI36
NG_009018.1:g.240489T>C , LRG_214:g.240489T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1967T>C	ENSP00000492721.2:n.1967T>C
ENST00000696138.1:c.5761T>C	ENSP00000512431.1:p.Leu1921=
ENST00000684826.1:c.343T>C	ENSP00000509994.1:p.Leu115=
ENST00000687027.1:c.-66T>C	ENSP00000508715.1:n.-66T>C
ENST00000687863.1:n.2424T>C
ENST00000691014.1:c.5809T>C	ENSP00000510595.1:p.Leu1937=
ENST00000693617.1:c.343T>C	ENSP00000510031.1:p.Leu115=
ENST00000358273.9:c.5779T>C MANE Select	ENSP00000351015.4:p.Leu1927=
ENST00000356175.7:c.5716T>C	ENSP00000348498.3:p.Leu1906=
ENST00000358273.8:c.5779T>C	ENSP00000351015.4:p.Leu1927=
ENST00000456735.6:c.4714T>C	ENSP00000389907.2:p.Leu1572=
ENST00000479536.2:c.137T>C
ENST00000493220.5:n.4252T>C
ENST00000579081.5:c.5915T>C	ENSP00000462408.1:n.5915T>C
ENST00000581113.6:n.1096T>C
NM_000267.3:c.5716T>C , LRG_214t1:c.5716T>C	NP_000258.1:p.Leu1906=
NM_001042492.2:c.5779T>C , LRG_214t2:c.5779T>C	NP_001035957.1:p.Leu1927=
XM_005257983.1:c.5779T>C	XP_005258040.1:p.Leu1927=
XM_005257984.1:c.5716T>C	XP_005258041.1:p.Leu1906=
XM_006721922.1:c.5809T>C	XP_006721985.1:p.Leu1937=
XM_006721923.2:c.5770T>C	XP_006721986.1:p.Leu1924=
XM_006721924.1:c.5809T>C	XP_006721987.1:p.Leu1937=
XM_006721925.1:c.5746T>C	XP_006721988.1:p.Leu1916=
XM_006721926.2:c.5809T>C	XP_006721989.1:p.Leu1937=
XM_006721927.1:c.5809T>C	XP_006721990.1:p.Leu1937=
XM_011524852.1:c.5806T>C	XP_011523154.1:p.Leu1936=
XM_011524853.1:c.5770T>C	XP_011523155.1:p.Leu1924=
XM_011524854.1:c.5770T>C	XP_011523156.1:p.Leu1924=
XM_011524855.1:c.5770T>C	XP_011523157.1:p.Leu1924=
XM_011524856.1:c.5770T>C	XP_011523158.1:p.Leu1924=
XM_011524857.1:c.5809T>C	XP_011523159.1:p.Leu1937=
NM_001042492.3:c.5779T>C MANE Select	NP_001035957.1:p.Leu1927=