Canonical Allele Identifier: CA346923762

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55870312C>A (hg19) ; chr2:g.55643177C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643177C>A , CM000664.2:g.55643177C>A	GRCh38
NC_000002.11:g.55870312C>A , CM000664.1:g.55870312C>A	GRCh37
NC_000002.10:g.55723816C>A	NCBI36
NG_033012.1:g.55734G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.2050G>T MANE Select	ENSP00000400646.2:p.Ala684Ser
ENST00000260604.8:c.*1592G>T	ENSP00000260604.4:n.*1592G>T
ENST00000415374.5:c.2050G>T	ENSP00000393953.1:p.Ala684Ser
ENST00000447944.6:c.2050G>T	ENSP00000400646.2:p.Ala684Ser
ENST00000481066.1:n.1112G>T
NM_033109.4:c.2050G>T	NP_149100.2:p.Ala684Ser
XM_005264629.1:c.1810G>T	XP_005264686.1:p.Ala604Ser
XM_005264629.2:c.1810G>T	XP_005264686.1:p.Ala604Ser
XM_017005172.1:c.1810G>T	XP_016860661.1:p.Ala604Ser
NM_033109.5:c.2050G>T MANE Select	NP_149100.2:p.Ala684Ser