Canonical Allele Identifier: CA396478843

Gene: PDF COG8

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.69330354G>A , CM000678.2:g.69330354G>A	GRCh38
NC_000016.9:g.69364257G>A , CM000678.1:g.69364257G>A	GRCh37
NC_000016.8:g.67921758G>A	NCBI36
NG_009013.1:g.14270C>T
NG_033043.1:g.5242C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288022.2:c.217C>T (PDF) MANE Select	ENSP00000288022.1:p.Pro73Ser
ENST00000306875.10:c.*26+459C>T (COG8) MANE Select	ENSP00000305459.6:n.*26+459C>T
ENST00000288022.1:c.217C>T (PDF)	ENSP00000288022.1:p.Pro73Ser
ENST00000306875.8:c.*26+459C>T (COG8)	ENSP00000305459.4:n.*26+459C>T
ENST00000562595.5:c.549+4972C>T (COG8)
ENST00000562949.1:c.352-1175C>T	ENSP00000457718.1:n.352-1175C>T
NM_022341.1:c.217C>T (PDF)	NP_071736.1:p.Pro73Ser
NM_032382.4:c.*26+459C>T (COG8)	NP_115758.3:n.*26+459C>T
NM_022341.2:c.217C>T (PDF) MANE Select	NP_071736.1:p.Pro73Ser
NM_032382.5:c.*26+459C>T (COG8) MANE Select	NP_115758.3:n.*26+459C>T
NM_001379261.1:c.*26+459C>T (COG8)	NP_001366190.1:n.*26+459C>T
NM_001379262.1:c.1759+565C>T (COG8)	NP_001366191.1:n.1759+565C>T
NM_001379263.1:c.*26+459C>T (COG8)	NP_001366192.1:n.*26+459C>T
NM_001379264.1:c.*23+462C>T (COG8)	NP_001366193.1:n.*23+462C>T
NM_001379265.1:c.1583-1175C>T (COG8)	NP_001366194.1:n.1583-1175C>T
NM_001379266.1:c.1414-1175C>T (COG8)	NP_001366195.1:n.1414-1175C>T