Canonical Allele Identifier: CA389145393

Gene: PNP

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20474924C>T , CM000676.2:g.20474924C>T	GRCh38
NC_000014.8:g.20943083C>T , CM000676.1:g.20943083C>T	GRCh37
NC_000014.7:g.20012923C>T	NCBI36
NG_009631.1:g.10542C>T , LRG_91:g.10542C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000270.4:c.437C>T MANE Select	NP_000261.2:p.Pro146Leu
ENST00000361505.10:c.437C>T MANE Select	ENSP00000354532.6:p.Pro146Leu
NM_000270.3:c.437C>T , LRG_91t1:c.437C>T	NP_000261.2:p.Pro146Leu
ENST00000361505.9:c.437C>T	ENSP00000354532.5:p.Pro146Leu
ENST00000553591.1:c.554C>T	ENSP00000452421.1:p.Pro185Leu
ENST00000553591.2:c.554C>T	ENSP00000452421.2:p.Pro185Leu
ENST00000554056.5:n.745C>T
ENST00000556293.6:n.2747C>T
ENST00000556754.1:n.1541C>T
ENST00000556754.2:n.3690C>T
ENST00000557229.5:n.753C>T
ENST00000557229.6:n.753C>T
ENST00000697613.1:c.437C>T	ENSP00000513359.1:p.Pro146Leu
ENST00000697614.1:c.200C>T	ENSP00000513360.1:p.Pro67Leu
ENST00000697615.1:n.1152C>T