Canonical Allele Identifier: CA47665129

Gene: PNPT1

Linked Data

• dbSNP Id: rs138443830
• gnomAD v2: 2-55908287-A-G
• gnomAD v3: 2-55681152-A-G
• gnomAD v4: 2-55681152-A-G
• MyVariant Identifiers: chr2:g.55908287A>G (hg19) ; chr2:g.55681152A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55681152A>G , CM000664.2:g.55681152A>G	GRCh38
NC_000002.11:g.55908287A>G , CM000664.1:g.55908287A>G	GRCh37
NC_000002.10:g.55761791A>G	NCBI36
NG_033012.1:g.17759T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.454-234T>C MANE Select	ENSP00000400646.2:n.454-234T>C
ENST00000260604.8:c.454-234T>C	ENSP00000260604.4:n.454-234T>C
ENST00000415374.5:c.454-234T>C	ENSP00000393953.1:n.454-234T>C
ENST00000429805.1:c.*102-234T>C	ENSP00000411994.1:n.*102-234T>C
ENST00000447944.6:c.454-234T>C	ENSP00000400646.2:n.454-234T>C
NM_033109.4:c.454-234T>C	NP_149100.2:n.454-234T>C
XM_005264629.1:c.214-234T>C	XP_005264686.1:n.214-234T>C
XM_011533142.1:c.454-234T>C	XP_011531444.1:n.454-234T>C
XM_005264629.2:c.214-234T>C	XP_005264686.1:n.214-234T>C
XM_017005172.1:c.214-234T>C	XP_016860661.1:n.214-234T>C
XR_001739010.1:n.484-234T>C
NM_033109.5:c.454-234T>C MANE Select	NP_149100.2:n.454-234T>C