Canonical Allele Identifier: CA346925860

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55874490C>G (hg19) ; chr2:g.55647355C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55647355C>G , CM000664.2:g.55647355C>G	GRCh38
NC_000002.11:g.55874490C>G , CM000664.1:g.55874490C>G	GRCh37
NC_000002.10:g.55727994C>G	NCBI36
NG_033012.1:g.51556G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1594G>C MANE Select	ENSP00000400646.2:p.Asp532His
ENST00000260604.8:c.*1149G>C	ENSP00000260604.4:n.*1149G>C
ENST00000415374.5:c.1594G>C	ENSP00000393953.1:p.Asp532His
ENST00000447944.6:c.1594G>C	ENSP00000400646.2:p.Asp532His
ENST00000481066.1:n.28G>C
NM_033109.4:c.1594G>C	NP_149100.2:p.Asp532His
XM_005264629.1:c.1354G>C	XP_005264686.1:p.Asp452His
XM_005264629.2:c.1354G>C	XP_005264686.1:p.Asp452His
XM_017005172.1:c.1354G>C	XP_016860661.1:p.Asp452His
XR_001739010.1:n.1671G>C
NM_033109.5:c.1594G>C MANE Select	NP_149100.2:p.Asp532His