Canonical Allele Identifier: CA389144187

Gene: PNP

Linked Data

• gnomAD v4: 14-20472344-G-T
• MyVariant Identifiers: chr14:g.20940503G>T (hg19) ; chr14:g.20472344G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472344G>T , CM000676.2:g.20472344G>T	GRCh38
NC_000014.8:g.20940503G>T , CM000676.1:g.20940503G>T	GRCh37
NC_000014.7:g.20010343G>T	NCBI36
NG_009631.1:g.7962G>T , LRG_91:g.7962G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.165G>T	ENSP00000452421.2:p.Trp55Cys
ENST00000556293.6:n.167G>T
ENST00000556754.2:n.1110G>T
ENST00000557229.6:n.167G>T
ENST00000697613.1:c.48G>T	ENSP00000513359.1:p.Trp16Cys
ENST00000697614.1:c.-190G>T	ENSP00000513360.1:n.-190G>T
ENST00000697615.1:n.566G>T
ENST00000361505.10:c.48G>T MANE Select	ENSP00000354532.6:p.Trp16Cys
ENST00000361505.9:c.48G>T	ENSP00000354532.5:p.Trp16Cys
ENST00000553418.5:c.48G>T	ENSP00000450663.1:p.Trp16Cys
ENST00000553591.1:c.165G>T	ENSP00000452421.1:p.Trp55Cys
ENST00000554056.5:n.159G>T
ENST00000554065.1:c.-190G>T	ENSP00000451108.1:n.-190G>T
ENST00000556293.5:n.167G>T
ENST00000557229.5:n.167G>T
NM_000270.3:c.48G>T , LRG_91t1:c.48G>T	NP_000261.2:p.Trp16Cys
NM_000270.4:c.48G>T MANE Select	NP_000261.2:p.Trp16Cys