Canonical Allele Identifier: CA399010568

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29661865T>C (hg19) ; chr17:g.31334847T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31334847T>C , CM000679.2:g.31334847T>C	GRCh38
NC_000017.10:g.29661865T>C , CM000679.1:g.29661865T>C	GRCh37
NC_000017.9:g.26685991T>C	NCBI36
NG_009018.1:g.244871T>C , LRG_214:g.244871T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.2010T>C	ENSP00000492721.2:n.2010T>C
ENST00000696138.1:c.5804T>C	ENSP00000512431.1:p.Leu1935Ser
ENST00000684826.1:c.386T>C	ENSP00000509994.1:p.Leu129Ser
ENST00000687027.1:c.-23T>C	ENSP00000508715.1:n.-23T>C
ENST00000687863.1:n.2467T>C
ENST00000691014.1:c.5852T>C	ENSP00000510595.1:p.Leu1951Ser
ENST00000693617.1:c.386T>C	ENSP00000510031.1:p.Leu129Ser
ENST00000358273.9:c.5822T>C MANE Select	ENSP00000351015.4:p.Leu1941Ser
ENST00000356175.7:c.5759T>C	ENSP00000348498.3:p.Leu1920Ser
ENST00000358273.8:c.5822T>C	ENSP00000351015.4:p.Leu1941Ser
ENST00000456735.6:c.4757T>C	ENSP00000389907.2:p.Leu1586Ser
ENST00000479536.2:c.247T>C
ENST00000579081.5:c.5958T>C	ENSP00000462408.1:n.5958T>C
ENST00000581113.6:n.1139T>C
NM_000267.3:c.5759T>C , LRG_214t1:c.5759T>C	NP_000258.1:p.Leu1920Ser
NM_001042492.2:c.5822T>C , LRG_214t2:c.5822T>C	NP_001035957.1:p.Leu1941Ser
XM_005257983.1:c.5822T>C	XP_005258040.1:p.Leu1941Ser
XM_005257984.1:c.5759T>C	XP_005258041.1:p.Leu1920Ser
XM_006721922.1:c.5852T>C	XP_006721985.1:p.Leu1951Ser
XM_006721923.2:c.5813T>C	XP_006721986.1:p.Leu1938Ser
XM_006721924.1:c.5852T>C	XP_006721987.1:p.Leu1951Ser
XM_006721925.1:c.5789T>C	XP_006721988.1:p.Leu1930Ser
XM_006721926.2:c.5852T>C	XP_006721989.1:p.Leu1951Ser
XM_006721927.1:c.5852T>C	XP_006721990.1:p.Leu1951Ser
XM_011524852.1:c.5849T>C	XP_011523154.1:p.Leu1950Ser
XM_011524853.1:c.5813T>C	XP_011523155.1:p.Leu1938Ser
XM_011524854.1:c.5813T>C	XP_011523156.1:p.Leu1938Ser
XM_011524855.1:c.5813T>C	XP_011523157.1:p.Leu1938Ser
XM_011524856.1:c.5813T>C	XP_011523158.1:p.Leu1938Ser
XM_011524857.1:c.5852T>C	XP_011523159.1:p.Leu1951Ser
NM_001042492.3:c.5822T>C MANE Select	NP_001035957.1:p.Leu1941Ser