Canonical Allele Identifier: CA1030926011

Gene: PNPT1

Linked Data

• dbSNP Id: rs1697225744
• gnomAD v3: 2-55680843-T-C
• gnomAD v4: 2-55680843-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680843T>C , CM000664.2:g.55680843T>C	GRCh38
NC_000002.11:g.55907978T>C , CM000664.1:g.55907978T>C	GRCh37
NC_000002.10:g.55761482T>C	NCBI36
NG_033012.1:g.18068A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.517+12A>G MANE Select	ENSP00000400646.2:n.517+12A>G
ENST00000260604.8:c.529A>G	ENSP00000260604.4:p.Ser177Gly
ENST00000415374.5:c.517+12A>G	ENSP00000393953.1:n.517+12A>G
ENST00000429805.1:c.*165+12A>G	ENSP00000411994.1:n.*165+12A>G
ENST00000447944.6:c.517+12A>G	ENSP00000400646.2:n.517+12A>G
NM_033109.4:c.517+12A>G	NP_149100.2:n.517+12A>G
XM_005264629.1:c.277+12A>G	XP_005264686.1:n.277+12A>G
XM_011533142.1:c.517+12A>G	XP_011531444.1:n.517+12A>G
XM_005264629.2:c.277+12A>G	XP_005264686.1:n.277+12A>G
XM_017005172.1:c.277+12A>G	XP_016860661.1:n.277+12A>G
XR_001739010.1:n.547+12A>G
NM_033109.5:c.517+12A>G MANE Select	NP_149100.2:n.517+12A>G