Canonical Allele Identifier: CA398986391

Gene: NF1

Linked Data

• dbSNP Id: rs2151430805
• MyVariant Identifiers: chr17:g.29556975G>A (hg19) ; chr17:g.31229957G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229957G>A , CM000679.2:g.31229957G>A	GRCh38
NC_000017.10:g.29556975G>A , CM000679.1:g.29556975G>A	GRCh37
NC_000017.9:g.26581101G>A	NCBI36
NG_009018.1:g.139981G>A , LRG_214:g.139981G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3018G>A	ENSP00000512431.1:p.Met1006Ile
ENST00000696139.1:c.318G>A	ENSP00000512432.1:p.Met106Ile
ENST00000691014.1:c.3003G>A	ENSP00000510595.1:p.Met1001Ile
ENST00000358273.9:c.2973G>A MANE Select	ENSP00000351015.4:p.Met991Ile
ENST00000356175.7:c.2973G>A	ENSP00000348498.3:p.Met991Ile
ENST00000358273.8:c.2973G>A	ENSP00000351015.4:p.Met991Ile
ENST00000456735.6:c.1971G>A	ENSP00000389907.2:p.Met657Ile
ENST00000493220.5:n.1509G>A
ENST00000495910.6:c.2748G>A
ENST00000579081.5:c.3075G>A	ENSP00000462408.1:p.Met1025Ile
NM_000267.3:c.2973G>A , LRG_214t1:c.2973G>A	NP_000258.1:p.Met991Ile
NM_001042492.2:c.2973G>A , LRG_214t2:c.2973G>A	NP_001035957.1:p.Met991Ile
XM_005257983.1:c.2973G>A	XP_005258040.1:p.Met991Ile
XM_005257984.1:c.2973G>A	XP_005258041.1:p.Met991Ile
XM_006721922.1:c.3003G>A	XP_006721985.1:p.Met1001Ile
XM_006721923.2:c.2964G>A	XP_006721986.1:p.Met988Ile
XM_006721924.1:c.3003G>A	XP_006721987.1:p.Met1001Ile
XM_006721925.1:c.3003G>A	XP_006721988.1:p.Met1001Ile
XM_006721926.2:c.3003G>A	XP_006721989.1:p.Met1001Ile
XM_006721927.1:c.3003G>A	XP_006721990.1:p.Met1001Ile
XM_006721928.2:c.3003G>A	XP_006721991.1:p.Met1001Ile
XM_011524852.1:c.3000G>A	XP_011523154.1:p.Met1000Ile
XM_011524853.1:c.2964G>A	XP_011523155.1:p.Met988Ile
XM_011524854.1:c.2964G>A	XP_011523156.1:p.Met988Ile
XM_011524855.1:c.2964G>A	XP_011523157.1:p.Met988Ile
XM_011524856.1:c.2964G>A	XP_011523158.1:p.Met988Ile
XM_011524857.1:c.3003G>A	XP_011523159.1:p.Met1001Ile
NM_001042492.3:c.2973G>A MANE Select	NP_001035957.1:p.Met991Ile