Canonical Allele Identifier: CA533179858

Gene: PNPT1

Linked Data

• dbSNP Id: rs1462725594
• gnomAD v2: 2-55870222-G-A
• gnomAD v4: 2-55643087-G-A
• MyVariant Identifiers: chr2:g.55870222G>A (hg19) ; chr2:g.55643087G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643087G>A , CM000664.2:g.55643087G>A	GRCh38
NC_000002.11:g.55870222G>A , CM000664.1:g.55870222G>A	GRCh37
NC_000002.10:g.55723726G>A	NCBI36
NG_033012.1:g.55824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2069+71C>T MANE Select	ENSP00000400646.2:n.2069+71C>T
ENST00000260604.8:c.*1611+71C>T	ENSP00000260604.4:n.*1611+71C>T
ENST00000415374.5:c.2069+71C>T	ENSP00000393953.1:n.2069+71C>T
ENST00000447944.6:c.2069+71C>T	ENSP00000400646.2:n.2069+71C>T
ENST00000481066.1:n.1131+71C>T
NM_033109.4:c.2069+71C>T	NP_149100.2:n.2069+71C>T
XM_005264629.1:c.1829+71C>T	XP_005264686.1:n.1829+71C>T
XM_005264629.2:c.1829+71C>T	XP_005264686.1:n.1829+71C>T
XM_017005172.1:c.1829+71C>T	XP_016860661.1:n.1829+71C>T
NM_033109.5:c.2069+71C>T MANE Select	NP_149100.2:n.2069+71C>T