Canonical Allele Identifier: CA399010491

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29657498T>C (hg19) ; chr17:g.31330480T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330480T>C , CM000679.2:g.31330480T>C	GRCh38
NC_000017.10:g.29657498T>C , CM000679.1:g.29657498T>C	GRCh37
NC_000017.9:g.26681624T>C	NCBI36
NG_009018.1:g.240504T>C , LRG_214:g.240504T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1982T>C	ENSP00000492721.2:n.1982T>C
ENST00000696138.1:c.5776T>C	ENSP00000512431.1:p.Ser1926Pro
ENST00000684826.1:c.358T>C	ENSP00000509994.1:p.Ser120Pro
ENST00000687027.1:c.-51T>C	ENSP00000508715.1:n.-51T>C
ENST00000687863.1:n.2439T>C
ENST00000691014.1:c.5824T>C	ENSP00000510595.1:p.Ser1942Pro
ENST00000693617.1:c.358T>C	ENSP00000510031.1:p.Ser120Pro
ENST00000358273.9:c.5794T>C MANE Select	ENSP00000351015.4:p.Ser1932Pro
ENST00000356175.7:c.5731T>C	ENSP00000348498.3:p.Ser1911Pro
ENST00000358273.8:c.5794T>C	ENSP00000351015.4:p.Ser1932Pro
ENST00000456735.6:c.4729T>C	ENSP00000389907.2:p.Ser1577Pro
ENST00000479536.2:c.152T>C
ENST00000493220.5:n.4267T>C
ENST00000579081.5:c.5930T>C	ENSP00000462408.1:n.5930T>C
ENST00000581113.6:n.1111T>C
NM_000267.3:c.5731T>C , LRG_214t1:c.5731T>C	NP_000258.1:p.Ser1911Pro
NM_001042492.2:c.5794T>C , LRG_214t2:c.5794T>C	NP_001035957.1:p.Ser1932Pro
XM_005257983.1:c.5794T>C	XP_005258040.1:p.Ser1932Pro
XM_005257984.1:c.5731T>C	XP_005258041.1:p.Ser1911Pro
XM_006721922.1:c.5824T>C	XP_006721985.1:p.Ser1942Pro
XM_006721923.2:c.5785T>C	XP_006721986.1:p.Ser1929Pro
XM_006721924.1:c.5824T>C	XP_006721987.1:p.Ser1942Pro
XM_006721925.1:c.5761T>C	XP_006721988.1:p.Ser1921Pro
XM_006721926.2:c.5824T>C	XP_006721989.1:p.Ser1942Pro
XM_006721927.1:c.5824T>C	XP_006721990.1:p.Ser1942Pro
XM_011524852.1:c.5821T>C	XP_011523154.1:p.Ser1941Pro
XM_011524853.1:c.5785T>C	XP_011523155.1:p.Ser1929Pro
XM_011524854.1:c.5785T>C	XP_011523156.1:p.Ser1929Pro
XM_011524855.1:c.5785T>C	XP_011523157.1:p.Ser1929Pro
XM_011524856.1:c.5785T>C	XP_011523158.1:p.Ser1929Pro
XM_011524857.1:c.5824T>C	XP_011523159.1:p.Ser1942Pro
NM_001042492.3:c.5794T>C MANE Select	NP_001035957.1:p.Ser1932Pro