Canonical Allele Identifier: CA389144205

Gene: PNP

Linked Data

• gnomAD v4: 14-20472348-C-G
• MyVariant Identifiers: chr14:g.20940507C>G (hg19) ; chr14:g.20472348C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472348C>G , CM000676.2:g.20472348C>G	GRCh38
NC_000014.8:g.20940507C>G , CM000676.1:g.20940507C>G	GRCh37
NC_000014.7:g.20010347C>G	NCBI36
NG_009631.1:g.7966C>G , LRG_91:g.7966C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.169C>G	ENSP00000452421.2:p.Leu57Val
ENST00000556293.6:n.171C>G
ENST00000556754.2:n.1114C>G
ENST00000557229.6:n.171C>G
ENST00000697613.1:c.52C>G	ENSP00000513359.1:p.Leu18Val
ENST00000697614.1:c.-186C>G	ENSP00000513360.1:n.-186C>G
ENST00000697615.1:n.570C>G
ENST00000361505.10:c.52C>G MANE Select	ENSP00000354532.6:p.Leu18Val
ENST00000361505.9:c.52C>G	ENSP00000354532.5:p.Leu18Val
ENST00000553418.5:c.52C>G	ENSP00000450663.1:p.Leu18Val
ENST00000553591.1:c.169C>G	ENSP00000452421.1:p.Leu57Val
ENST00000554056.5:n.163C>G
ENST00000554065.1:c.-186C>G	ENSP00000451108.1:n.-186C>G
ENST00000556293.5:n.171C>G
ENST00000557229.5:n.171C>G
NM_000270.3:c.52C>G , LRG_91t1:c.52C>G	NP_000261.2:p.Leu18Val
NM_000270.4:c.52C>G MANE Select	NP_000261.2:p.Leu18Val