Canonical Allele Identifier: CA399010616

Gene: NF1

Linked Data

• dbSNP Id: rs1057520575
• MyVariant Identifiers: chr17:g.29661885T>A (hg19) ; chr17:g.31334867T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31334867T>A , CM000679.2:g.31334867T>A	GRCh38
NC_000017.10:g.29661885T>A , CM000679.1:g.29661885T>A	GRCh37
NC_000017.9:g.26686011T>A	NCBI36
NG_009018.1:g.244891T>A , LRG_214:g.244891T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.2030T>A	ENSP00000492721.2:n.2030T>A
ENST00000696138.1:c.5824T>A	ENSP00000512431.1:p.Tyr1942Asn
ENST00000684826.1:c.406T>A	ENSP00000509994.1:p.Tyr136Asn
ENST00000687027.1:c.-3T>A	ENSP00000508715.1:n.-3T>A
ENST00000687863.1:n.2487T>A
ENST00000691014.1:c.5872T>A	ENSP00000510595.1:p.Tyr1958Asn
ENST00000693617.1:c.406T>A	ENSP00000510031.1:p.Tyr136Asn
ENST00000358273.9:c.5842T>A MANE Select	ENSP00000351015.4:p.Tyr1948Asn
ENST00000356175.7:c.5779T>A	ENSP00000348498.3:p.Tyr1927Asn
ENST00000358273.8:c.5842T>A	ENSP00000351015.4:p.Tyr1948Asn
ENST00000456735.6:c.4777T>A	ENSP00000389907.2:p.Tyr1593Asn
ENST00000479536.2:c.267T>A
ENST00000579081.5:c.5978T>A	ENSP00000462408.1:n.5978T>A
ENST00000581113.6:n.1159T>A
NM_000267.3:c.5779T>A , LRG_214t1:c.5779T>A	NP_000258.1:p.Tyr1927Asn
NM_001042492.2:c.5842T>A , LRG_214t2:c.5842T>A	NP_001035957.1:p.Tyr1948Asn
XM_005257983.1:c.5842T>A	XP_005258040.1:p.Tyr1948Asn
XM_005257984.1:c.5779T>A	XP_005258041.1:p.Tyr1927Asn
XM_006721922.1:c.5872T>A	XP_006721985.1:p.Tyr1958Asn
XM_006721923.2:c.5833T>A	XP_006721986.1:p.Tyr1945Asn
XM_006721924.1:c.5872T>A	XP_006721987.1:p.Tyr1958Asn
XM_006721925.1:c.5809T>A	XP_006721988.1:p.Tyr1937Asn
XM_006721926.2:c.5872T>A	XP_006721989.1:p.Tyr1958Asn
XM_006721927.1:c.5872T>A	XP_006721990.1:p.Tyr1958Asn
XM_011524852.1:c.5869T>A	XP_011523154.1:p.Tyr1957Asn
XM_011524853.1:c.5833T>A	XP_011523155.1:p.Tyr1945Asn
XM_011524854.1:c.5833T>A	XP_011523156.1:p.Tyr1945Asn
XM_011524855.1:c.5833T>A	XP_011523157.1:p.Tyr1945Asn
XM_011524856.1:c.5833T>A	XP_011523158.1:p.Tyr1945Asn
XM_011524857.1:c.5872T>A	XP_011523159.1:p.Tyr1958Asn
NM_001042492.3:c.5842T>A MANE Select	NP_001035957.1:p.Tyr1948Asn