Canonical Allele Identifier: CA1030920531

Gene: PNPT1

Linked Data

• dbSNP Id: rs1696936422
• gnomAD v3: 2-55672147-A-G
• gnomAD v4: 2-55672147-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672147A>G , CM000664.2:g.55672147A>G	GRCh38
NC_000002.11:g.55899282A>G , CM000664.1:g.55899282A>G	GRCh37
NC_000002.10:g.55752786A>G	NCBI36
NG_033012.1:g.26764T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.867-101T>C MANE Select	ENSP00000400646.2:n.867-101T>C
ENST00000260604.8:c.*422-101T>C	ENSP00000260604.4:n.*422-101T>C
ENST00000415374.5:c.867-101T>C	ENSP00000393953.1:n.867-101T>C
ENST00000447944.6:c.867-101T>C	ENSP00000400646.2:n.867-101T>C
NM_033109.4:c.867-101T>C	NP_149100.2:n.867-101T>C
XM_005264629.1:c.627-101T>C	XP_005264686.1:n.627-101T>C
XM_011533142.1:c.867-101T>C	XP_011531444.1:n.867-101T>C
XM_005264629.2:c.627-101T>C	XP_005264686.1:n.627-101T>C
XM_017005172.1:c.627-101T>C	XP_016860661.1:n.627-101T>C
XR_001739010.1:n.897-101T>C
NM_033109.5:c.867-101T>C MANE Select	NP_149100.2:n.867-101T>C