Canonical Allele Identifier: CA399015787

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29670151A>T (hg19) ; chr17:g.31343133A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343133A>T , CM000679.2:g.31343133A>T	GRCh38
NC_000017.10:g.29670151A>T , CM000679.1:g.29670151A>T	GRCh37
NC_000017.9:g.26694277A>T	NCBI36
NG_009018.1:g.253157A>T , LRG_214:g.253157A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7169A>T	ENSP00000512431.1:p.Lys2390Ile
ENST00000684826.1:c.1751A>T	ENSP00000509994.1:p.Lys584Ile
ENST00000687027.1:c.1343A>T	ENSP00000508715.1:p.Lys448Ile
ENST00000687863.1:n.3832A>T
ENST00000689464.1:c.126A>T
ENST00000691014.1:c.7217A>T	ENSP00000510595.1:p.Lys2406Ile
ENST00000693617.1:c.1751A>T	ENSP00000510031.1:p.Lys584Ile
ENST00000358273.9:c.7187A>T MANE Select	ENSP00000351015.4:p.Lys2396Ile
ENST00000356175.7:c.7124A>T	ENSP00000348498.3:p.Lys2375Ile
ENST00000358273.8:c.7187A>T	ENSP00000351015.4:p.Lys2396Ile
ENST00000456735.6:c.6122A>T	ENSP00000389907.2:p.Lys2041Ile
ENST00000471572.6:c.570A>T
ENST00000579081.5:c.7323A>T	ENSP00000462408.1:n.7323A>T
ENST00000581790.5:c.330A>T
ENST00000582892.1:n.429A>T
NM_000267.3:c.7124A>T , LRG_214t1:c.7124A>T	NP_000258.1:p.Lys2375Ile
NM_001042492.2:c.7187A>T , LRG_214t2:c.7187A>T	NP_001035957.1:p.Lys2396Ile
XM_005257983.1:c.7187A>T	XP_005258040.1:p.Lys2396Ile
XM_005257984.1:c.7124A>T	XP_005258041.1:p.Lys2375Ile
XM_006721922.1:c.7217A>T	XP_006721985.1:p.Lys2406Ile
XM_006721923.2:c.7178A>T	XP_006721986.1:p.Lys2393Ile
XM_006721924.1:c.7217A>T	XP_006721987.1:p.Lys2406Ile
XM_006721925.1:c.7154A>T	XP_006721988.1:p.Lys2385Ile
XM_006721926.2:c.7217A>T	XP_006721989.1:p.Lys2406Ile
XM_006721927.1:c.7217A>T	XP_006721990.1:p.Lys2406Ile
XM_011524852.1:c.7214A>T	XP_011523154.1:p.Lys2405Ile
XM_011524853.1:c.7178A>T	XP_011523155.1:p.Lys2393Ile
XM_011524854.1:c.7178A>T	XP_011523156.1:p.Lys2393Ile
XM_011524855.1:c.7178A>T	XP_011523157.1:p.Lys2393Ile
XM_011524856.1:c.7178A>T	XP_011523158.1:p.Lys2393Ile
XM_011524857.1:c.7217A>T	XP_011523159.1:p.Lys2406Ile
NM_001042492.3:c.7187A>T MANE Select	NP_001035957.1:p.Lys2396Ile