Canonical Allele Identifier: CA10583524

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31350202A>C , CM000679.2:g.31350202A>C	GRCh38
NC_000017.10:g.29677220A>C , CM000679.1:g.29677220A>C	GRCh37
NC_000017.9:g.26701346A>C	NCBI36
NG_009018.1:g.260226A>C , LRG_214:g.260226A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.7341A>C MANE Select	NP_001035957.1:p.Glu2447Asp
ENST00000358273.9:c.7341A>C MANE Select	ENSP00000351015.4:p.Glu2447Asp
NM_000267.3:c.7278A>C , LRG_214t1:c.7278A>C	NP_000258.1:p.Glu2426Asp
NM_001042492.2:c.7341A>C , LRG_214t2:c.7341A>C	NP_001035957.1:p.Glu2447Asp
ENST00000356175.7:c.7278A>C	ENSP00000348498.3:p.Glu2426Asp
ENST00000358273.8:c.7341A>C	ENSP00000351015.4:p.Glu2447Asp
ENST00000456735.6:c.6276A>C	ENSP00000389907.2:p.Glu2092Asp
ENST00000471572.6:c.724A>C
ENST00000579081.5:c.7477A>C	ENSP00000462408.1:n.7477A>C
ENST00000581790.5:c.484A>C
ENST00000684826.1:c.1905A>C	ENSP00000509994.1:p.Glu635Asp
ENST00000687027.1:c.1497A>C	ENSP00000508715.1:p.Glu499Asp
ENST00000687863.1:n.3986A>C
ENST00000689464.1:c.391A>C
ENST00000691014.1:c.7371A>C	ENSP00000510595.1:p.Glu2457Asp
ENST00000693617.1:c.1905A>C	ENSP00000510031.1:p.Glu635Asp
ENST00000696138.1:c.7323A>C	ENSP00000512431.1:p.Glu2441Asp
XM_005257983.1:c.7341A>C	XP_005258040.1:p.Glu2447Asp
XM_005257984.1:c.7278A>C	XP_005258041.1:p.Glu2426Asp
XM_006721922.1:c.7371A>C	XP_006721985.1:p.Glu2457Asp
XM_006721923.2:c.7332A>C	XP_006721986.1:p.Glu2444Asp
XM_006721924.1:c.7371A>C	XP_006721987.1:p.Glu2457Asp
XM_006721925.1:c.7308A>C	XP_006721988.1:p.Glu2436Asp
XM_006721926.2:c.7371A>C	XP_006721989.1:p.Glu2457Asp
XM_006721927.1:c.7371A>C	XP_006721990.1:p.Glu2457Asp
XM_011524852.1:c.7368A>C	XP_011523154.1:p.Glu2456Asp
XM_011524853.1:c.7332A>C	XP_011523155.1:p.Glu2444Asp
XM_011524854.1:c.7332A>C	XP_011523156.1:p.Glu2444Asp
XM_011524855.1:c.7332A>C	XP_011523157.1:p.Glu2444Asp
XM_011524856.1:c.7332A>C	XP_011523158.1:p.Glu2444Asp
XM_011524857.1:c.7371A>C	XP_011523159.1:p.Glu2457Asp