Canonical Allele Identifier: CA770376824

Gene: PNPT1

Linked Data

• dbSNP Id: rs1271089724
• gnomAD v3: 2-55647436-C-CAG
• gnomAD v4: 2-55647436-C-CAG
• MyVariant Identifiers: chr2:g.55874571_55874572insAG (hg19) ; chr2:g.55647436_55647437insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55647438_55647439dup , CM000664.2:g.55647438_55647439dup	GRCh38
NC_000002.11:g.55874573_55874574dup , CM000664.1:g.55874573_55874574dup	GRCh37
NC_000002.10:g.55728077_55728078dup	NCBI36
NG_033012.1:g.51473_51474dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.1511_1512dup MANE Select	ENSP00000400646.2:p.Ala505LeufsTer6
ENST00000260604.8:c.*1066_*1067dup	ENSP00000260604.4:n.*1066_*1067dup
ENST00000415374.5:c.1511_1512dup	ENSP00000393953.1:p.Ala505LeufsTer6
ENST00000415489.1:c.518_519dup
ENST00000447944.6:c.1511_1512dup	ENSP00000400646.2:p.Ala505LeufsTer6
NM_033109.4:c.1511_1512dup	NP_149100.2:p.Ala505LeufsTer6
XM_005264629.1:c.1271_1272dup	XP_005264686.1:p.Ala425LeufsTer6
XM_011533142.1:c.*43_*44dup	XP_011531444.1:n.*43_*44dup
XM_005264629.2:c.1271_1272dup	XP_005264686.1:p.Ala425LeufsTer6
XM_017005172.1:c.1271_1272dup	XP_016860661.1:p.Ala425LeufsTer6
XR_001739010.1:n.1588_1589dup
NM_033109.5:c.1511_1512dup MANE Select	NP_149100.2:p.Ala505LeufsTer6