Canonical Allele Identifier: CA485450733

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20943147T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20474988T>C , CM000676.2:g.20474988T>C	GRCh38
NC_000014.8:g.20943147T>C , CM000676.1:g.20943147T>C	GRCh37
NC_000014.7:g.20012987T>C	NCBI36
NG_009631.1:g.10606T>C , LRG_91:g.10606T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.578+40T>C	ENSP00000452421.2:n.578+40T>C
ENST00000556293.6:n.2811T>C
ENST00000556754.2:n.3754T>C
ENST00000557229.6:n.817T>C
ENST00000697613.1:c.461+40T>C	ENSP00000513359.1:n.461+40T>C
ENST00000697614.1:c.224+40T>C	ENSP00000513360.1:n.224+40T>C
ENST00000697615.1:n.1216T>C
ENST00000361505.10:c.461+40T>C MANE Select	ENSP00000354532.6:n.461+40T>C
ENST00000361505.9:c.461+40T>C	ENSP00000354532.5:n.461+40T>C
ENST00000553591.1:c.578+40T>C	ENSP00000452421.1:n.578+40T>C
ENST00000554056.5:n.769+40T>C
ENST00000556754.1:n.1605T>C
ENST00000557229.5:n.817T>C
NM_000270.3:c.461+40T>C , LRG_91t1:c.461+40T>C	NP_000261.2:n.461+40T>C
NM_000270.4:c.461+40T>C MANE Select	NP_000261.2:n.461+40T>C