Canonical Allele Identifier: CA389144611

Gene: PNP

Linked Data

• dbSNP Id: rs2139335280
• gnomAD v3: 14-20472422-A-T
• gnomAD v4: 14-20472422-A-T
• MyVariant Identifiers: chr14:g.20940581A>T (hg19) ; chr14:g.20472422A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20472422A>T , CM000676.2:g.20472422A>T	GRCh38
NC_000014.8:g.20940581A>T , CM000676.1:g.20940581A>T	GRCh37
NC_000014.7:g.20010421A>T	NCBI36
NG_009631.1:g.8040A>T , LRG_91:g.8040A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.243A>T	ENSP00000452421.2:p.Leu81Phe
ENST00000556293.6:n.245A>T
ENST00000556754.2:n.1188A>T
ENST00000557229.6:n.245A>T
ENST00000697613.1:c.126A>T	ENSP00000513359.1:p.Leu42Phe
ENST00000697614.1:c.-112A>T	ENSP00000513360.1:n.-112A>T
ENST00000697615.1:n.644A>T
ENST00000361505.10:c.126A>T MANE Select	ENSP00000354532.6:p.Leu42Phe
ENST00000361505.9:c.126A>T	ENSP00000354532.5:p.Leu42Phe
ENST00000553418.5:c.126A>T	ENSP00000450663.1:p.Leu42Phe
ENST00000553591.1:c.243A>T	ENSP00000452421.1:p.Leu81Phe
ENST00000554056.5:n.237A>T
ENST00000554065.1:c.-112A>T	ENSP00000451108.1:n.-112A>T
ENST00000556293.5:n.245A>T
ENST00000557229.5:n.245A>T
NM_000270.3:c.126A>T , LRG_91t1:c.126A>T	NP_000261.2:p.Leu42Phe
NM_000270.4:c.126A>T MANE Select	NP_000261.2:p.Leu42Phe