Canonical Allele Identifier: CA426173167

Gene: PNPT1

Linked Data

• dbSNP Id: rs1696379610
• gnomAD v3: 2-55656150-A-G
• gnomAD v4: 2-55656150-A-G
• MyVariant Identifiers: chr2:g.55883285A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55656150A>G , CM000664.2:g.55656150A>G	GRCh38
NC_000002.11:g.55883285A>G , CM000664.1:g.55883285A>G	GRCh37
NC_000002.10:g.55736789A>G	NCBI36
NG_033012.1:g.42761T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.1422T>C MANE Select	ENSP00000400646.2:p.Ser474=
ENST00000260604.8:c.*977T>C	ENSP00000260604.4:n.*977T>C
ENST00000415374.5:c.1422T>C	ENSP00000393953.1:p.Ser474=
ENST00000415489.1:c.429T>C
ENST00000447944.6:c.1422T>C	ENSP00000400646.2:p.Ser474=
NM_033109.4:c.1422T>C	NP_149100.2:p.Ser474=
XM_005264629.1:c.1182T>C	XP_005264686.1:p.Ser394=
XM_011533142.1:c.1422T>C	XP_011531444.1:p.Ser474=
XM_005264629.2:c.1182T>C	XP_005264686.1:p.Ser394=
XM_017005172.1:c.1182T>C	XP_016860661.1:p.Ser394=
XR_001739010.1:n.1452T>C
NM_033109.5:c.1422T>C MANE Select	NP_149100.2:p.Ser474=