Canonical Allele Identifier: CA161444

Gene: PDGFRA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54264951C>T , CM000666.2:g.54264951C>T	GRCh38
NC_000004.11:g.55131118C>T , CM000666.1:g.55131118C>T	GRCh37
NC_000004.10:g.54825875C>T	NCBI36
NG_009250.1:g.40855C>T , LRG_309:g.40855C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006206.6:c.661C>T MANE Select	NP_006197.1:p.Leu221Phe
ENST00000257290.10:c.661C>T MANE Select	ENSP00000257290.5:p.Leu221Phe
NM_001347827.1:c.661C>T	NP_001334756.1:p.Leu221Phe
NM_001347827.2:c.661C>T	NP_001334756.1:p.Leu221Phe
NM_001347828.1:c.736C>T	NP_001334757.1:p.Leu246Phe
NM_001347828.2:c.736C>T	NP_001334757.1:p.Leu246Phe
NM_001347829.1:c.661C>T	NP_001334758.1:p.Leu221Phe
NM_001347829.2:c.661C>T	NP_001334758.1:p.Leu221Phe
NM_001347830.1:c.700C>T	NP_001334759.1:p.Leu234Phe
NM_001347830.2:c.700C>T	NP_001334759.1:p.Leu234Phe
NM_006206.4:c.661C>T , LRG_309t1:c.661C>T	NP_006197.1:p.Leu221Phe
NM_006206.5:c.661C>T	NP_006197.1:p.Leu221Phe
ENST00000257290.9:c.661C>T	ENSP00000257290.5:p.Leu221Phe
ENST00000507166.5:c.1018-9974C>T	ENSP00000423325.1:n.1018-9974C>T
ENST00000508170.5:c.*995C>T	ENSP00000425648.1:n.*995C>T
ENST00000509092.5:n.479C>T
ENST00000509490.5:c.661C>T	ENSP00000424218.1:p.Leu221Phe
XM_005265743.1:c.661C>T	XP_005265800.1:p.Leu221Phe
XM_006714039.2:c.736C>T	XP_006714102.1:p.Leu246Phe
XM_006714041.2:c.736C>T	XP_006714104.1:p.Leu246Phe
XM_006714041.3:c.736C>T	XP_006714104.1:p.Leu246Phe
XM_011534385.1:c.661C>T	XP_011532687.1:p.Leu221Phe
XM_011534386.1:c.661C>T	XP_011532688.1:p.Leu221Phe
XM_017008281.1:c.700C>T	XP_016863770.1:p.Leu234Phe