Canonical Allele Identifier: CA1030925998

Gene: PNPT1

Linked Data

• dbSNP Id: rs1697225188
• gnomAD v3: 2-55680814-A-C
• gnomAD v4: 2-55680814-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680814A>C , CM000664.2:g.55680814A>C	GRCh38
NC_000002.11:g.55907949A>C , CM000664.1:g.55907949A>C	GRCh37
NC_000002.10:g.55761453A>C	NCBI36
NG_033012.1:g.18097T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.517+41T>G MANE Select	ENSP00000400646.2:n.517+41T>G
ENST00000260604.8:c.*18T>G	ENSP00000260604.4:n.*18T>G
ENST00000415374.5:c.517+41T>G	ENSP00000393953.1:n.517+41T>G
ENST00000429805.1:c.*165+41T>G	ENSP00000411994.1:n.*165+41T>G
ENST00000447944.6:c.517+41T>G	ENSP00000400646.2:n.517+41T>G
NM_033109.4:c.517+41T>G	NP_149100.2:n.517+41T>G
XM_005264629.1:c.277+41T>G	XP_005264686.1:n.277+41T>G
XM_011533142.1:c.517+41T>G	XP_011531444.1:n.517+41T>G
XM_005264629.2:c.277+41T>G	XP_005264686.1:n.277+41T>G
XM_017005172.1:c.277+41T>G	XP_016860661.1:n.277+41T>G
XR_001739010.1:n.547+41T>G
NM_033109.5:c.517+41T>G MANE Select	NP_149100.2:n.517+41T>G