Canonical Allele Identifier: CA499207285

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29508745A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31181727A>T , CM000679.2:g.31181727A>T	GRCh38
NC_000017.10:g.29508745A>T , CM000679.1:g.29508745A>T	GRCh37
NC_000017.9:g.26532871A>T	NCBI36
NG_009018.1:g.91751A>T , LRG_214:g.91751A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.672A>T	ENSP00000512431.1:p.Val224=
ENST00000686189.1:c.87A>T	ENSP00000509682.1:p.Val29=
ENST00000691014.1:c.672A>T	ENSP00000510595.1:p.Val224=
ENST00000358273.9:c.672A>T MANE Select	ENSP00000351015.4:p.Val224=
ENST00000490416.2:c.252A>T	ENSP00000491431.1:p.Val84=
ENST00000356175.7:c.672A>T	ENSP00000348498.3:p.Val224=
ENST00000358273.8:c.672A>T	ENSP00000351015.4:p.Val224=
ENST00000431387.8:c.672A>T	ENSP00000412921.4:p.Val224=
ENST00000487476.5:n.1055A>T
ENST00000490416.1:n.306A>T
ENST00000495910.6:c.447A>T
ENST00000579081.5:c.774A>T	ENSP00000462408.1:p.Val258=
NM_000267.3:c.672A>T , LRG_214t1:c.672A>T	NP_000258.1:p.Val224=
NM_001042492.2:c.672A>T , LRG_214t2:c.672A>T	NP_001035957.1:p.Val224=
NM_001128147.2:c.672A>T	NP_001121619.1:p.Val224=
XM_005257983.1:c.672A>T	XP_005258040.1:p.Val224=
XM_005257984.1:c.672A>T	XP_005258041.1:p.Val224=
XM_006721922.1:c.672A>T	XP_006721985.1:p.Val224=
XM_006721923.2:c.633A>T	XP_006721986.1:p.Val211=
XM_006721924.1:c.672A>T	XP_006721987.1:p.Val224=
XM_006721925.1:c.672A>T	XP_006721988.1:p.Val224=
XM_006721926.2:c.672A>T	XP_006721989.1:p.Val224=
XM_006721927.1:c.672A>T	XP_006721990.1:p.Val224=
XM_006721928.2:c.672A>T	XP_006721991.1:p.Val224=
XM_011524852.1:c.672A>T	XP_011523154.1:p.Val224=
XM_011524853.1:c.633A>T	XP_011523155.1:p.Val211=
XM_011524854.1:c.633A>T	XP_011523156.1:p.Val211=
XM_011524855.1:c.633A>T	XP_011523157.1:p.Val211=
XM_011524856.1:c.633A>T	XP_011523158.1:p.Val211=
XM_011524857.1:c.672A>T	XP_011523159.1:p.Val224=
NM_001042492.3:c.672A>T MANE Select	NP_001035957.1:p.Val224=
NM_001128147.3:c.672A>T	NP_001121619.1:p.Val224=