Canonical Allele Identifier: CA1668438

Gene: PNPT1

Linked Data

• dbSNP Id: rs56812655
• ExAC: 2:55907950 T / A
• gnomAD v2: 2-55907950-T-A
• gnomAD v3: 2-55680815-T-A
• gnomAD v4: 2-55680815-T-A
• MyVariant Identifiers: chr2:g.55907950T>A (hg19) ; chr2:g.55680815T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680815T>A , CM000664.2:g.55680815T>A	GRCh38
NC_000002.11:g.55907950T>A , CM000664.1:g.55907950T>A	GRCh37
NC_000002.10:g.55761454T>A	NCBI36
NG_033012.1:g.18096A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.517+40A>T MANE Select	ENSP00000400646.2:n.517+40A>T
ENST00000260604.8:c.*17A>T	ENSP00000260604.4:n.*17A>T
ENST00000415374.5:c.517+40A>T	ENSP00000393953.1:n.517+40A>T
ENST00000429805.1:c.*165+40A>T	ENSP00000411994.1:n.*165+40A>T
ENST00000447944.6:c.517+40A>T	ENSP00000400646.2:n.517+40A>T
NM_033109.4:c.517+40A>T	NP_149100.2:n.517+40A>T
XM_005264629.1:c.277+40A>T	XP_005264686.1:n.277+40A>T
XM_011533142.1:c.517+40A>T	XP_011531444.1:n.517+40A>T
XM_005264629.2:c.277+40A>T	XP_005264686.1:n.277+40A>T
XM_017005172.1:c.277+40A>T	XP_016860661.1:n.277+40A>T
XR_001739010.1:n.547+40A>T
NM_033109.5:c.517+40A>T MANE Select	NP_149100.2:n.517+40A>T