Canonical Allele Identifier: CA389145697

Gene: PNP

Linked Data

• dbSNP Id: rs104894452
• gnomAD v3: 14-20475175-A-T
• gnomAD v4: 14-20475175-A-T
• MyVariant Identifiers: chr14:g.20943334A>T (hg19) ; chr14:g.20475175A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475175A>T , CM000676.2:g.20475175A>T	GRCh38
NC_000014.8:g.20943334A>T , CM000676.1:g.20943334A>T	GRCh37
NC_000014.7:g.20013174A>T	NCBI36
NG_009631.1:g.10793A>T , LRG_91:g.10793A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.692A>T	ENSP00000452421.2:p.Tyr231Phe
ENST00000556293.6:n.2998A>T
ENST00000556754.2:n.3941A>T
ENST00000557229.6:n.1004A>T
ENST00000697613.1:c.575A>T	ENSP00000513359.1:p.Tyr192Phe
ENST00000697614.1:c.338A>T	ENSP00000513360.1:p.Tyr113Phe
ENST00000697615.1:n.1403A>T
ENST00000361505.10:c.575A>T MANE Select	ENSP00000354532.6:p.Tyr192Phe
ENST00000361505.9:c.575A>T	ENSP00000354532.5:p.Tyr192Phe
ENST00000554056.5:n.883A>T
ENST00000556754.1:n.1792A>T
NM_000270.3:c.575A>T , LRG_91t1:c.575A>T	NP_000261.2:p.Tyr192Phe
NM_000270.4:c.575A>T MANE Select	NP_000261.2:p.Tyr192Phe