Canonical Allele Identifier: CA389144771

Gene: PNP

Linked Data

• gnomAD v4: 14-20472454-T-C
• MyVariant Identifiers: chr14:g.20940613T>C (hg19) ; chr14:g.20472454T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472454T>C , CM000676.2:g.20472454T>C	GRCh38
NC_000014.8:g.20940613T>C , CM000676.1:g.20940613T>C	GRCh37
NC_000014.7:g.20010453T>C	NCBI36
NG_009631.1:g.8072T>C , LRG_91:g.8072T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.275T>C	ENSP00000452421.2:p.Ile92Thr
ENST00000556293.6:n.277T>C
ENST00000556754.2:n.1220T>C
ENST00000557229.6:n.277T>C
ENST00000697613.1:c.158T>C	ENSP00000513359.1:p.Ile53Thr
ENST00000697614.1:c.-80T>C	ENSP00000513360.1:n.-80T>C
ENST00000697615.1:n.676T>C
ENST00000361505.10:c.158T>C MANE Select	ENSP00000354532.6:p.Ile53Thr
ENST00000361505.9:c.158T>C	ENSP00000354532.5:p.Ile53Thr
ENST00000553418.5:c.158T>C	ENSP00000450663.1:p.Ile53Thr
ENST00000553591.1:c.275T>C	ENSP00000452421.1:p.Ile92Thr
ENST00000554056.5:n.269T>C
ENST00000554065.1:c.-80T>C	ENSP00000451108.1:n.-80T>C
ENST00000556293.5:n.277T>C
ENST00000557229.5:n.277T>C
NM_000270.3:c.158T>C , LRG_91t1:c.158T>C	NP_000261.2:p.Ile53Thr
NM_000270.4:c.158T>C MANE Select	NP_000261.2:p.Ile53Thr