Canonical Allele Identifier: CA532793721

Gene: PNPT1

Linked Data

• dbSNP Id: rs1366311570
• gnomAD v2: 2-55894075-A-G
• gnomAD v4: 2-55666940-A-G
• MyVariant Identifiers: chr2:g.55894075A>G (hg19) ; chr2:g.55666940A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666940A>G , CM000664.2:g.55666940A>G	GRCh38
NC_000002.11:g.55894075A>G , CM000664.1:g.55894075A>G	GRCh37
NC_000002.10:g.55747579A>G	NCBI36
NG_033012.1:g.31971T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1176+51T>C MANE Select	ENSP00000400646.2:n.1176+51T>C
ENST00000260604.8:c.*731+51T>C	ENSP00000260604.4:n.*731+51T>C
ENST00000415374.5:c.1176+51T>C	ENSP00000393953.1:n.1176+51T>C
ENST00000415489.1:c.250+51T>C
ENST00000447944.6:c.1176+51T>C	ENSP00000400646.2:n.1176+51T>C
NM_033109.4:c.1176+51T>C	NP_149100.2:n.1176+51T>C
XM_005264629.1:c.936+51T>C	XP_005264686.1:n.936+51T>C
XM_011533142.1:c.1176+51T>C	XP_011531444.1:n.1176+51T>C
XM_005264629.2:c.936+51T>C	XP_005264686.1:n.936+51T>C
XM_017005172.1:c.936+51T>C	XP_016860661.1:n.936+51T>C
XR_001739010.1:n.1206+51T>C
NM_033109.5:c.1176+51T>C MANE Select	NP_149100.2:n.1176+51T>C