Canonical Allele Identifier: CA389143939

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20940467A>C (hg19) ; chr14:g.20472308A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472308A>C , CM000676.2:g.20472308A>C	GRCh38
NC_000014.8:g.20940467A>C , CM000676.1:g.20940467A>C	GRCh37
NC_000014.7:g.20010307A>C	NCBI36
NG_009631.1:g.7926A>C , LRG_91:g.7926A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.129A>C	ENSP00000452421.2:p.Arg43Ser
ENST00000556293.6:n.131A>C
ENST00000556754.2:n.1074A>C
ENST00000557229.6:n.131A>C
ENST00000697613.1:c.12A>C	ENSP00000513359.1:p.Gly4=
ENST00000697614.1:c.-226A>C	ENSP00000513360.1:n.-226A>C
ENST00000697615.1:n.530A>C
ENST00000361505.10:c.12A>C MANE Select	ENSP00000354532.6:p.Gly4=
ENST00000361505.9:c.12A>C	ENSP00000354532.5:p.Gly4=
ENST00000553418.5:c.12A>C	ENSP00000450663.1:p.Gly4=
ENST00000553591.1:c.129A>C	ENSP00000452421.1:p.Arg43Ser
ENST00000554056.5:n.123A>C
ENST00000554065.1:c.-226A>C	ENSP00000451108.1:n.-226A>C
ENST00000556293.5:n.131A>C
ENST00000557229.5:n.131A>C
NM_000270.3:c.12A>C , LRG_91t1:c.12A>C	NP_000261.2:p.Gly4=
NM_000270.4:c.12A>C MANE Select	NP_000261.2:p.Gly4=