Canonical Allele Identifier: CA1252384241

Gene: PNPT1

Linked Data

• dbSNP Id: rs1695885118
• gnomAD v4: 2-55643143-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643143A>G , CM000664.2:g.55643143A>G	GRCh38
NC_000002.11:g.55870278A>G , CM000664.1:g.55870278A>G	GRCh37
NC_000002.10:g.55723782A>G	NCBI36
NG_033012.1:g.55768T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2069+15T>C MANE Select	ENSP00000400646.2:n.2069+15T>C
ENST00000260604.8:c.*1611+15T>C	ENSP00000260604.4:n.*1611+15T>C
ENST00000415374.5:c.2069+15T>C	ENSP00000393953.1:n.2069+15T>C
ENST00000447944.6:c.2069+15T>C	ENSP00000400646.2:n.2069+15T>C
ENST00000481066.1:n.1131+15T>C
NM_033109.4:c.2069+15T>C	NP_149100.2:n.2069+15T>C
XM_005264629.1:c.1829+15T>C	XP_005264686.1:n.1829+15T>C
XM_005264629.2:c.1829+15T>C	XP_005264686.1:n.1829+15T>C
XM_017005172.1:c.1829+15T>C	XP_016860661.1:n.1829+15T>C
NM_033109.5:c.2069+15T>C MANE Select	NP_149100.2:n.2069+15T>C