Canonical Allele Identifier: CA399010528

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29657513T>C (hg19) ; chr17:g.31330495T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330495T>C , CM000679.2:g.31330495T>C	GRCh38
NC_000017.10:g.29657513T>C , CM000679.1:g.29657513T>C	GRCh37
NC_000017.9:g.26681639T>C	NCBI36
NG_009018.1:g.240519T>C , LRG_214:g.240519T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1997T>C	ENSP00000492721.2:n.1997T>C
ENST00000696138.1:c.5791T>C	ENSP00000512431.1:p.Ser1931Pro
ENST00000684826.1:c.373T>C	ENSP00000509994.1:p.Ser125Pro
ENST00000687027.1:c.-36T>C	ENSP00000508715.1:n.-36T>C
ENST00000687863.1:n.2454T>C
ENST00000691014.1:c.5839T>C	ENSP00000510595.1:p.Ser1947Pro
ENST00000693617.1:c.373T>C	ENSP00000510031.1:p.Ser125Pro
ENST00000358273.9:c.5809T>C MANE Select	ENSP00000351015.4:p.Ser1937Pro
ENST00000356175.7:c.5746T>C	ENSP00000348498.3:p.Ser1916Pro
ENST00000358273.8:c.5809T>C	ENSP00000351015.4:p.Ser1937Pro
ENST00000456735.6:c.4744T>C	ENSP00000389907.2:p.Ser1582Pro
ENST00000479536.2:c.167T>C
ENST00000493220.5:n.4282T>C
ENST00000579081.5:c.5945T>C	ENSP00000462408.1:n.5945T>C
ENST00000581113.6:n.1126T>C
NM_000267.3:c.5746T>C , LRG_214t1:c.5746T>C	NP_000258.1:p.Ser1916Pro
NM_001042492.2:c.5809T>C , LRG_214t2:c.5809T>C	NP_001035957.1:p.Ser1937Pro
XM_005257983.1:c.5809T>C	XP_005258040.1:p.Ser1937Pro
XM_005257984.1:c.5746T>C	XP_005258041.1:p.Ser1916Pro
XM_006721922.1:c.5839T>C	XP_006721985.1:p.Ser1947Pro
XM_006721923.2:c.5800T>C	XP_006721986.1:p.Ser1934Pro
XM_006721924.1:c.5839T>C	XP_006721987.1:p.Ser1947Pro
XM_006721925.1:c.5776T>C	XP_006721988.1:p.Ser1926Pro
XM_006721926.2:c.5839T>C	XP_006721989.1:p.Ser1947Pro
XM_006721927.1:c.5839T>C	XP_006721990.1:p.Ser1947Pro
XM_011524852.1:c.5836T>C	XP_011523154.1:p.Ser1946Pro
XM_011524853.1:c.5800T>C	XP_011523155.1:p.Ser1934Pro
XM_011524854.1:c.5800T>C	XP_011523156.1:p.Ser1934Pro
XM_011524855.1:c.5800T>C	XP_011523157.1:p.Ser1934Pro
XM_011524856.1:c.5800T>C	XP_011523158.1:p.Ser1934Pro
XM_011524857.1:c.5839T>C	XP_011523159.1:p.Ser1947Pro
NM_001042492.3:c.5809T>C MANE Select	NP_001035957.1:p.Ser1937Pro