Canonical Allele Identifier: CA389145714

Gene: PNP

Linked Data

• MyVariant Identifiers: chr14:g.20943341G>T (hg19) ; chr14:g.20475182G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475182G>T , CM000676.2:g.20475182G>T	GRCh38
NC_000014.8:g.20943341G>T , CM000676.1:g.20943341G>T	GRCh37
NC_000014.7:g.20013181G>T	NCBI36
NG_009631.1:g.10800G>T , LRG_91:g.10800G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553591.2:c.699G>T	ENSP00000452421.2:p.Met233Ile
ENST00000556293.6:n.3005G>T
ENST00000556754.2:n.3948G>T
ENST00000557229.6:n.1011G>T
ENST00000697613.1:c.582G>T	ENSP00000513359.1:p.Met194Ile
ENST00000697614.1:c.345G>T	ENSP00000513360.1:p.Met115Ile
ENST00000697615.1:n.1410G>T
ENST00000361505.10:c.582G>T MANE Select	ENSP00000354532.6:p.Met194Ile
ENST00000361505.9:c.582G>T	ENSP00000354532.5:p.Met194Ile
ENST00000554056.5:n.890G>T
ENST00000556754.1:n.1799G>T
NM_000270.3:c.582G>T , LRG_91t1:c.582G>T	NP_000261.2:p.Met194Ile
NM_000270.4:c.582G>T MANE Select	NP_000261.2:p.Met194Ile