Canonical Allele Identifier: CA346923719

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55870292C>G (hg19) ; chr2:g.55643157C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643157C>G , CM000664.2:g.55643157C>G	GRCh38
NC_000002.11:g.55870292C>G , CM000664.1:g.55870292C>G	GRCh37
NC_000002.10:g.55723796C>G	NCBI36
NG_033012.1:g.55754G>C

Transcript Alleles

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