Canonical Allele Identifier: CA346928593

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55894143G>C (hg19) ; chr2:g.55667008G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55667008G>C , CM000664.2:g.55667008G>C	GRCh38
NC_000002.11:g.55894143G>C , CM000664.1:g.55894143G>C	GRCh37
NC_000002.10:g.55747647G>C	NCBI36
NG_033012.1:g.31903C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1159C>G MANE Select	ENSP00000400646.2:p.Gln387Glu
ENST00000260604.8:c.*714C>G	ENSP00000260604.4:n.*714C>G
ENST00000415374.5:c.1159C>G	ENSP00000393953.1:p.Gln387Glu
ENST00000415489.1:c.233C>G
ENST00000447944.6:c.1159C>G	ENSP00000400646.2:p.Gln387Glu
NM_033109.4:c.1159C>G	NP_149100.2:p.Gln387Glu
XM_005264629.1:c.919C>G	XP_005264686.1:p.Gln307Glu
XM_011533142.1:c.1159C>G	XP_011531444.1:p.Gln387Glu
XM_005264629.2:c.919C>G	XP_005264686.1:p.Gln307Glu
XM_017005172.1:c.919C>G	XP_016860661.1:p.Gln307Glu
XR_001739010.1:n.1189C>G
NM_033109.5:c.1159C>G MANE Select	NP_149100.2:p.Gln387Glu