Canonical Allele Identifier: CA7082148

Gene: PNP

Linked Data

• ClinVar Variation Id: 529206
• ClinVar RCV Id: RCV000634526
• dbSNP Id: rs150531909
• ExAC: 14:20943241 C / T
• gnomAD v2: 14-20943241-C-T
• gnomAD v3: 14-20475082-C-T
• gnomAD v4: 14-20475082-C-T
• MyVariant Identifiers: chr14:g.20943241C>T (hg19) ; chr14:g.20475082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475082C>T , CM000676.2:g.20475082C>T	GRCh38
NC_000014.8:g.20943241C>T , CM000676.1:g.20943241C>T	GRCh37
NC_000014.7:g.20013081C>T	NCBI36
NG_009631.1:g.10700C>T , LRG_91:g.10700C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.599C>T	ENSP00000452421.2:p.Ala200Val
ENST00000556293.6:n.2905C>T
ENST00000556754.2:n.3848C>T
ENST00000557229.6:n.911C>T
ENST00000697613.1:c.482C>T	ENSP00000513359.1:p.Ala161Val
ENST00000697614.1:c.245C>T	ENSP00000513360.1:p.Ala82Val
ENST00000697615.1:n.1310C>T
ENST00000361505.10:c.482C>T MANE Select	ENSP00000354532.6:p.Ala161Val
ENST00000361505.9:c.482C>T	ENSP00000354532.5:p.Ala161Val
ENST00000553591.1:c.599C>T	ENSP00000452421.1:p.Ala200Val
ENST00000554056.5:n.790C>T
ENST00000556754.1:n.1699C>T
ENST00000557229.5:n.911C>T
NM_000270.3:c.482C>T , LRG_91t1:c.482C>T	NP_000261.2:p.Ala161Val
NM_000270.4:c.482C>T MANE Select	NP_000261.2:p.Ala161Val