Canonical Allele Identifier: CA399001301

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29592314A>C (hg19) ; chr17:g.31265296A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265296A>C , CM000679.2:g.31265296A>C	GRCh38
NC_000017.10:g.29592314A>C , CM000679.1:g.29592314A>C	GRCh37
NC_000017.9:g.26616440A>C	NCBI36
NG_009018.1:g.175320A>C , LRG_214:g.175320A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.594A>C	ENSP00000492721.2:n.594A>C
ENST00000696138.1:c.4774A>C	ENSP00000512431.1:p.Thr1592Pro
ENST00000696140.1:n.898A>C
ENST00000696141.1:c.783A>C
ENST00000687863.1:n.1437A>C
ENST00000691014.1:c.4822A>C	ENSP00000510595.1:p.Thr1608Pro
ENST00000358273.9:c.4792A>C MANE Select	ENSP00000351015.4:p.Thr1598Pro
ENST00000356175.7:c.4729A>C	ENSP00000348498.3:p.Thr1577Pro
ENST00000358273.8:c.4792A>C	ENSP00000351015.4:p.Thr1598Pro
ENST00000456735.6:c.3727A>C	ENSP00000389907.2:p.Thr1243Pro
ENST00000493220.5:n.3265A>C
ENST00000579081.5:c.4831A>C	ENSP00000462408.1:p.Thr1611Pro
NM_000267.3:c.4729A>C , LRG_214t1:c.4729A>C	NP_000258.1:p.Thr1577Pro
NM_001042492.2:c.4792A>C , LRG_214t2:c.4792A>C	NP_001035957.1:p.Thr1598Pro
XM_005257983.1:c.4792A>C	XP_005258040.1:p.Thr1598Pro
XM_005257984.1:c.4729A>C	XP_005258041.1:p.Thr1577Pro
XM_006721922.1:c.4822A>C	XP_006721985.1:p.Thr1608Pro
XM_006721923.2:c.4783A>C	XP_006721986.1:p.Thr1595Pro
XM_006721924.1:c.4822A>C	XP_006721987.1:p.Thr1608Pro
XM_006721925.1:c.4759A>C	XP_006721988.1:p.Thr1587Pro
XM_006721926.2:c.4822A>C	XP_006721989.1:p.Thr1608Pro
XM_006721927.1:c.4822A>C	XP_006721990.1:p.Thr1608Pro
XM_006721928.2:c.4822A>C	XP_006721991.1:p.Thr1608Pro
XM_011524852.1:c.4819A>C	XP_011523154.1:p.Thr1607Pro
XM_011524853.1:c.4783A>C	XP_011523155.1:p.Thr1595Pro
XM_011524854.1:c.4783A>C	XP_011523156.1:p.Thr1595Pro
XM_011524855.1:c.4783A>C	XP_011523157.1:p.Thr1595Pro
XM_011524856.1:c.4783A>C	XP_011523158.1:p.Thr1595Pro
XM_011524857.1:c.4822A>C	XP_011523159.1:p.Thr1608Pro
NM_001042492.3:c.4792A>C MANE Select	NP_001035957.1:p.Thr1598Pro