Canonical Allele Identifier: CA389145517

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20943249G>T (hg19) ; chr14:g.20475090G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475090G>T , CM000676.2:g.20475090G>T	GRCh38
NC_000014.8:g.20943249G>T , CM000676.1:g.20943249G>T	GRCh37
NC_000014.7:g.20013089G>T	NCBI36
NG_009631.1:g.10708G>T , LRG_91:g.10708G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.607G>T	ENSP00000452421.2:p.Asp203Tyr
ENST00000556293.6:n.2913G>T
ENST00000556754.2:n.3856G>T
ENST00000557229.6:n.919G>T
ENST00000697613.1:c.490G>T	ENSP00000513359.1:p.Asp164Tyr
ENST00000697614.1:c.253G>T	ENSP00000513360.1:p.Asp85Tyr
ENST00000697615.1:n.1318G>T
ENST00000361505.10:c.490G>T MANE Select	ENSP00000354532.6:p.Asp164Tyr
ENST00000361505.9:c.490G>T	ENSP00000354532.5:p.Asp164Tyr
ENST00000553591.1:c.607G>T	ENSP00000452421.1:p.Asp203Tyr
ENST00000554056.5:n.798G>T
ENST00000556754.1:n.1707G>T
ENST00000557229.5:n.919G>T
NM_000270.3:c.490G>T , LRG_91t1:c.490G>T	NP_000261.2:p.Asp164Tyr
NM_000270.4:c.490G>T MANE Select	NP_000261.2:p.Asp164Tyr