Canonical Allele Identifier: CA499233679

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29661875T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31334857T>C , CM000679.2:g.31334857T>C	GRCh38
NC_000017.10:g.29661875T>C , CM000679.1:g.29661875T>C	GRCh37
NC_000017.9:g.26686001T>C	NCBI36
NG_009018.1:g.244881T>C , LRG_214:g.244881T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.2020T>C	ENSP00000492721.2:n.2020T>C
ENST00000696138.1:c.5814T>C	ENSP00000512431.1:p.Leu1938=
ENST00000684826.1:c.396T>C	ENSP00000509994.1:p.Leu132=
ENST00000687027.1:c.-13T>C	ENSP00000508715.1:n.-13T>C
ENST00000687863.1:n.2477T>C
ENST00000691014.1:c.5862T>C	ENSP00000510595.1:p.Leu1954=
ENST00000693617.1:c.396T>C	ENSP00000510031.1:p.Leu132=
ENST00000358273.9:c.5832T>C MANE Select	ENSP00000351015.4:p.Leu1944=
ENST00000356175.7:c.5769T>C	ENSP00000348498.3:p.Leu1923=
ENST00000358273.8:c.5832T>C	ENSP00000351015.4:p.Leu1944=
ENST00000456735.6:c.4767T>C	ENSP00000389907.2:p.Leu1589=
ENST00000479536.2:c.257T>C
ENST00000579081.5:c.5968T>C	ENSP00000462408.1:n.5968T>C
ENST00000581113.6:n.1149T>C
NM_000267.3:c.5769T>C , LRG_214t1:c.5769T>C	NP_000258.1:p.Leu1923=
NM_001042492.2:c.5832T>C , LRG_214t2:c.5832T>C	NP_001035957.1:p.Leu1944=
XM_005257983.1:c.5832T>C	XP_005258040.1:p.Leu1944=
XM_005257984.1:c.5769T>C	XP_005258041.1:p.Leu1923=
XM_006721922.1:c.5862T>C	XP_006721985.1:p.Leu1954=
XM_006721923.2:c.5823T>C	XP_006721986.1:p.Leu1941=
XM_006721924.1:c.5862T>C	XP_006721987.1:p.Leu1954=
XM_006721925.1:c.5799T>C	XP_006721988.1:p.Leu1933=
XM_006721926.2:c.5862T>C	XP_006721989.1:p.Leu1954=
XM_006721927.1:c.5862T>C	XP_006721990.1:p.Leu1954=
XM_011524852.1:c.5859T>C	XP_011523154.1:p.Leu1953=
XM_011524853.1:c.5823T>C	XP_011523155.1:p.Leu1941=
XM_011524854.1:c.5823T>C	XP_011523156.1:p.Leu1941=
XM_011524855.1:c.5823T>C	XP_011523157.1:p.Leu1941=
XM_011524856.1:c.5823T>C	XP_011523158.1:p.Leu1941=
XM_011524857.1:c.5862T>C	XP_011523159.1:p.Leu1954=
NM_001042492.3:c.5832T>C MANE Select	NP_001035957.1:p.Leu1944=