Canonical Allele Identifier: CA1667774

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 381397
• ClinVar RCV Id: RCV000444039 ; RCV002062421
• dbSNP Id: rs370060385
• ExAC: 2:55864753 A / G
• gnomAD v2: 2-55864753-A-G
• gnomAD v3: 2-55637618-A-G
• gnomAD v4: 2-55637618-A-G
• MyVariant Identifiers: chr2:g.55864753A>G (hg19) ; chr2:g.55637618A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55637618A>G , CM000664.2:g.55637618A>G	GRCh38
NC_000002.11:g.55864753A>G , CM000664.1:g.55864753A>G	GRCh37
NC_000002.10:g.55718257A>G	NCBI36
NG_033012.1:g.61293T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2149-19T>C MANE Select	ENSP00000400646.2:n.2149-19T>C
ENST00000260604.8:c.*1691-19T>C	ENSP00000260604.4:n.*1691-19T>C
ENST00000415374.5:c.2149-19T>C	ENSP00000393953.1:n.2149-19T>C
ENST00000447944.6:c.2149-19T>C	ENSP00000400646.2:n.2149-19T>C
ENST00000481066.1:n.1211-19T>C
NM_033109.4:c.2149-19T>C	NP_149100.2:n.2149-19T>C
XM_005264629.1:c.1909-19T>C	XP_005264686.1:n.1909-19T>C
XM_005264629.2:c.1909-19T>C	XP_005264686.1:n.1909-19T>C
XM_017005172.1:c.1909-19T>C	XP_016860661.1:n.1909-19T>C
NM_033109.5:c.2149-19T>C MANE Select	NP_149100.2:n.2149-19T>C