Canonical Allele Identifier: CA426175479

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55680907-A-G
• MyVariant Identifiers: chr2:g.55908042A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680907A>G , CM000664.2:g.55680907A>G	GRCh38
NC_000002.11:g.55908042A>G , CM000664.1:g.55908042A>G	GRCh37
NC_000002.10:g.55761546A>G	NCBI36
NG_033012.1:g.18004T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.465T>C MANE Select	ENSP00000400646.2:p.Asn155=
ENST00000260604.8:c.465T>C	ENSP00000260604.4:p.Asn155=
ENST00000415374.5:c.465T>C	ENSP00000393953.1:p.Asn155=
ENST00000429805.1:c.*113T>C	ENSP00000411994.1:n.*113T>C
ENST00000447944.6:c.465T>C	ENSP00000400646.2:p.Asn155=
NM_033109.4:c.465T>C	NP_149100.2:p.Asn155=
XM_005264629.1:c.225T>C	XP_005264686.1:p.Asn75=
XM_011533142.1:c.465T>C	XP_011531444.1:p.Asn155=
XM_005264629.2:c.225T>C	XP_005264686.1:p.Asn75=
XM_017005172.1:c.225T>C	XP_016860661.1:p.Asn75=
XR_001739010.1:n.495T>C
NM_033109.5:c.465T>C MANE Select	NP_149100.2:p.Asn155=