Canonical Allele Identifier: CA389145503

Gene: PNP

Linked Data

• dbSNP Id: rs762814255
• MyVariant Identifiers: chr14:g.20943243A>T (hg19) ; chr14:g.20475084A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475084A>T , CM000676.2:g.20475084A>T	GRCh38
NC_000014.8:g.20943243A>T , CM000676.1:g.20943243A>T	GRCh37
NC_000014.7:g.20013083A>T	NCBI36
NG_009631.1:g.10702A>T , LRG_91:g.10702A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.601A>T	ENSP00000452421.2:p.Met201Leu
ENST00000556293.6:n.2907A>T
ENST00000556754.2:n.3850A>T
ENST00000557229.6:n.913A>T
ENST00000697613.1:c.484A>T	ENSP00000513359.1:p.Met162Leu
ENST00000697614.1:c.247A>T	ENSP00000513360.1:p.Met83Leu
ENST00000697615.1:n.1312A>T
ENST00000361505.10:c.484A>T MANE Select	ENSP00000354532.6:p.Met162Leu
ENST00000361505.9:c.484A>T	ENSP00000354532.5:p.Met162Leu
ENST00000553591.1:c.601A>T	ENSP00000452421.1:p.Met201Leu
ENST00000554056.5:n.792A>T
ENST00000556754.1:n.1701A>T
ENST00000557229.5:n.913A>T
NM_000270.3:c.484A>T , LRG_91t1:c.484A>T	NP_000261.2:p.Met162Leu
NM_000270.4:c.484A>T MANE Select	NP_000261.2:p.Met162Leu