Canonical Allele Identifier: CA389145701

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20943336G>C (hg19) ; chr14:g.20475177G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475177G>C , CM000676.2:g.20475177G>C	GRCh38
NC_000014.8:g.20943336G>C , CM000676.1:g.20943336G>C	GRCh37
NC_000014.7:g.20013176G>C	NCBI36
NG_009631.1:g.10795G>C , LRG_91:g.10795G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.694G>C	ENSP00000452421.2:p.Val232Leu
ENST00000556293.6:n.3000G>C
ENST00000556754.2:n.3943G>C
ENST00000557229.6:n.1006G>C
ENST00000697613.1:c.577G>C	ENSP00000513359.1:p.Val193Leu
ENST00000697614.1:c.340G>C	ENSP00000513360.1:p.Val114Leu
ENST00000697615.1:n.1405G>C
ENST00000361505.10:c.577G>C MANE Select	ENSP00000354532.6:p.Val193Leu
ENST00000361505.9:c.577G>C	ENSP00000354532.5:p.Val193Leu
ENST00000554056.5:n.885G>C
ENST00000556754.1:n.1794G>C
NM_000270.3:c.577G>C , LRG_91t1:c.577G>C	NP_000261.2:p.Val193Leu
NM_000270.4:c.577G>C MANE Select	NP_000261.2:p.Val193Leu