Canonical Allele Identifier: CA2659132918

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55666941-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666941A>G , CM000664.2:g.55666941A>G	GRCh38
NC_000002.11:g.55894076A>G , CM000664.1:g.55894076A>G	GRCh37
NC_000002.10:g.55747580A>G	NCBI36
NG_033012.1:g.31970T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1176+50T>C MANE Select	ENSP00000400646.2:n.1176+50T>C
ENST00000260604.8:c.*731+50T>C	ENSP00000260604.4:n.*731+50T>C
ENST00000415374.5:c.1176+50T>C	ENSP00000393953.1:n.1176+50T>C
ENST00000415489.1:c.250+50T>C
ENST00000447944.6:c.1176+50T>C	ENSP00000400646.2:n.1176+50T>C
NM_033109.4:c.1176+50T>C	NP_149100.2:n.1176+50T>C
XM_005264629.1:c.936+50T>C	XP_005264686.1:n.936+50T>C
XM_011533142.1:c.1176+50T>C	XP_011531444.1:n.1176+50T>C
XM_005264629.2:c.936+50T>C	XP_005264686.1:n.936+50T>C
XM_017005172.1:c.936+50T>C	XP_016860661.1:n.936+50T>C
XR_001739010.1:n.1206+50T>C
NM_033109.5:c.1176+50T>C MANE Select	NP_149100.2:n.1176+50T>C