Canonical Allele Identifier: CA2659132393

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55647255-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55647255A>G , CM000664.2:g.55647255A>G	GRCh38
NC_000002.11:g.55874390A>G , CM000664.1:g.55874390A>G	GRCh37
NC_000002.10:g.55727894A>G	NCBI36
NG_033012.1:g.51656T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1602+92T>C MANE Select	ENSP00000400646.2:n.1602+92T>C
ENST00000260604.8:c.*1157+92T>C	ENSP00000260604.4:n.*1157+92T>C
ENST00000415374.5:c.1602+92T>C	ENSP00000393953.1:n.1602+92T>C
ENST00000447944.6:c.1602+92T>C	ENSP00000400646.2:n.1602+92T>C
ENST00000481066.1:n.36+92T>C
NM_033109.4:c.1602+92T>C	NP_149100.2:n.1602+92T>C
XM_005264629.1:c.1362+92T>C	XP_005264686.1:n.1362+92T>C
XM_005264629.2:c.1362+92T>C	XP_005264686.1:n.1362+92T>C
XM_017005172.1:c.1362+92T>C	XP_016860661.1:n.1362+92T>C
XR_001739010.1:n.1679+92T>C
NM_033109.5:c.1602+92T>C MANE Select	NP_149100.2:n.1602+92T>C