Canonical Allele Identifier: CA1252398276

Gene: PNPT1

Linked Data

• dbSNP Id: rs1696746166

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666821_55666822dup , CM000664.2:g.55666821_55666822dup	GRCh38
NC_000002.11:g.55893956_55893957dup , CM000664.1:g.55893956_55893957dup	GRCh37
NC_000002.10:g.55747460_55747461dup	NCBI36
NG_033012.1:g.32089_32090dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1176+169_1176+170dup MANE Select	ENSP00000400646.2:n.1176+169_1176+170dup
ENST00000260604.8:c.*731+169_*731+170dup	ENSP00000260604.4:n.*731+169_*731+170dup
ENST00000415374.5:c.1176+169_1176+170dup	ENSP00000393953.1:n.1176+169_1176+170dup
ENST00000415489.1:c.250+169_250+170dup
ENST00000447944.6:c.1176+169_1176+170dup	ENSP00000400646.2:n.1176+169_1176+170dup
NM_033109.4:c.1176+169_1176+170dup	NP_149100.2:n.1176+169_1176+170dup
XM_005264629.1:c.936+169_936+170dup	XP_005264686.1:n.936+169_936+170dup
XM_011533142.1:c.1176+169_1176+170dup	XP_011531444.1:n.1176+169_1176+170dup
XM_005264629.2:c.936+169_936+170dup	XP_005264686.1:n.936+169_936+170dup
XM_017005172.1:c.936+169_936+170dup	XP_016860661.1:n.936+169_936+170dup
XR_001739010.1:n.1206+169_1206+170dup
NM_033109.5:c.1176+169_1176+170dup MANE Select	NP_149100.2:n.1176+169_1176+170dup