Canonical Allele Identifier: CA1667825

Gene: PNPT1

Linked Data

• dbSNP Id: rs750529937
• ExAC: 2:55870286 A / G
• gnomAD v2: 2-55870286-A-G
• gnomAD v4: 2-55643151-A-G
• MyVariant Identifiers: chr2:g.55870286A>G (hg19) ; chr2:g.55643151A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643151A>G , CM000664.2:g.55643151A>G	GRCh38
NC_000002.11:g.55870286A>G , CM000664.1:g.55870286A>G	GRCh37
NC_000002.10:g.55723790A>G	NCBI36
NG_033012.1:g.55760T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2069+7T>C MANE Select	ENSP00000400646.2:n.2069+7T>C
ENST00000260604.8:c.*1611+7T>C	ENSP00000260604.4:n.*1611+7T>C
ENST00000415374.5:c.2069+7T>C	ENSP00000393953.1:n.2069+7T>C
ENST00000447944.6:c.2069+7T>C	ENSP00000400646.2:n.2069+7T>C
ENST00000481066.1:n.1131+7T>C
NM_033109.4:c.2069+7T>C	NP_149100.2:n.2069+7T>C
XM_005264629.1:c.1829+7T>C	XP_005264686.1:n.1829+7T>C
XM_005264629.2:c.1829+7T>C	XP_005264686.1:n.1829+7T>C
XM_017005172.1:c.1829+7T>C	XP_016860661.1:n.1829+7T>C
NM_033109.5:c.2069+7T>C MANE Select	NP_149100.2:n.2069+7T>C