Canonical Allele Identifier: CA389145493

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20943237C>T (hg19) ; chr14:g.20475078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475078C>T , CM000676.2:g.20475078C>T	GRCh38
NC_000014.8:g.20943237C>T , CM000676.1:g.20943237C>T	GRCh37
NC_000014.7:g.20013077C>T	NCBI36
NG_009631.1:g.10696C>T , LRG_91:g.10696C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.595C>T	ENSP00000452421.2:p.Pro199Ser
ENST00000556293.6:n.2901C>T
ENST00000556754.2:n.3844C>T
ENST00000557229.6:n.907C>T
ENST00000697613.1:c.478C>T	ENSP00000513359.1:p.Pro160Ser
ENST00000697614.1:c.241C>T	ENSP00000513360.1:p.Pro81Ser
ENST00000697615.1:n.1306C>T
ENST00000361505.10:c.478C>T MANE Select	ENSP00000354532.6:p.Pro160Ser
ENST00000361505.9:c.478C>T	ENSP00000354532.5:p.Pro160Ser
ENST00000553591.1:c.595C>T	ENSP00000452421.1:p.Pro199Ser
ENST00000554056.5:n.786C>T
ENST00000556754.1:n.1695C>T
ENST00000557229.5:n.907C>T
NM_000270.3:c.478C>T , LRG_91t1:c.478C>T	NP_000261.2:p.Pro160Ser
NM_000270.4:c.478C>T MANE Select	NP_000261.2:p.Pro160Ser