Canonical Allele Identifier: CA257418178

Gene: PNP

Linked Data

• dbSNP Id: rs1034748921
• gnomAD v2: 14-20943151-G-C
• gnomAD v3: 14-20474992-G-C
• gnomAD v4: 14-20474992-G-C
• MyVariant Identifiers: chr14:g.20943151G>C (hg19) ; chr14:g.20474992G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20474992G>C , CM000676.2:g.20474992G>C	GRCh38
NC_000014.8:g.20943151G>C , CM000676.1:g.20943151G>C	GRCh37
NC_000014.7:g.20012991G>C	NCBI36
NG_009631.1:g.10610G>C , LRG_91:g.10610G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.578+44G>C	ENSP00000452421.2:n.578+44G>C
ENST00000556293.6:n.2815G>C
ENST00000556754.2:n.3758G>C
ENST00000557229.6:n.821G>C
ENST00000697613.1:c.461+44G>C	ENSP00000513359.1:n.461+44G>C
ENST00000697614.1:c.224+44G>C	ENSP00000513360.1:n.224+44G>C
ENST00000697615.1:n.1220G>C
ENST00000361505.10:c.461+44G>C MANE Select	ENSP00000354532.6:n.461+44G>C
ENST00000361505.9:c.461+44G>C	ENSP00000354532.5:n.461+44G>C
ENST00000553591.1:c.578+44G>C	ENSP00000452421.1:n.578+44G>C
ENST00000554056.5:n.769+44G>C
ENST00000556754.1:n.1609G>C
ENST00000557229.5:n.821G>C
NM_000270.3:c.461+44G>C , LRG_91t1:c.461+44G>C	NP_000261.2:n.461+44G>C
NM_000270.4:c.461+44G>C MANE Select	NP_000261.2:n.461+44G>C