Canonical Allele Identifier: CA361714512

Gene: PDGFRB

Linked Data

• MyVariant Identifiers: chr5:g.149509335T>G (hg19) ; chr5:g.150129772T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150129772T>G , CM000667.2:g.150129772T>G	GRCh38
NC_000005.9:g.149509335T>G , CM000667.1:g.149509335T>G	GRCh37
NC_000005.8:g.149489528T>G	NCBI36
NG_023367.1:g.31088A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261799.9:c.1564A>C MANE Select	ENSP00000261799.4:p.Ile522Leu
ENST00000261799.8:c.1564A>C	ENSP00000261799.4:p.Ile522Leu
ENST00000520579.5:c.*878A>C	ENSP00000430026.1:n.*878A>C
NM_002609.3:c.1564A>C	NP_002600.1:p.Ile522Leu
XM_005268464.2:c.1372A>C	XP_005268521.1:p.Ile458Leu
XM_011537658.1:c.1564A>C	XP_011535960.1:p.Ile522Leu
XM_011537659.1:c.1564A>C	XP_011535961.1:p.Ile522Leu
XM_011537660.1:c.1564A>C	XP_011535962.1:p.Ile522Leu
NM_001355016.1:c.1372A>C	NP_001341945.1:p.Ile458Leu
NM_001355017.1:c.1081A>C	NP_001341946.1:p.Ile361Leu
NM_002609.4:c.1564A>C MANE Select	NP_002600.1:p.Ile522Leu
NM_001355016.2:c.1372A>C	NP_001341945.1:p.Ile458Leu
NM_001355017.2:c.1081A>C	NP_001341946.1:p.Ile361Leu