Canonical Allele Identifier: CA1668218

Gene: PNPT1

Linked Data

• dbSNP Id: rs756392408
• ExAC: 2:55894179 C / G
• gnomAD v2: 2-55894179-C-G
• MyVariant Identifiers: chr2:g.55894179C>G (hg19) ; chr2:g.55667044C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55667044C>G , CM000664.2:g.55667044C>G	GRCh38
NC_000002.11:g.55894179C>G , CM000664.1:g.55894179C>G	GRCh37
NC_000002.10:g.55747683C>G	NCBI36
NG_033012.1:g.31867G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1123G>C MANE Select	ENSP00000400646.2:p.Asp375His
ENST00000260604.8:c.*678G>C	ENSP00000260604.4:n.*678G>C
ENST00000415374.5:c.1123G>C	ENSP00000393953.1:p.Asp375His
ENST00000415489.1:c.197G>C
ENST00000447944.6:c.1123G>C	ENSP00000400646.2:p.Asp375His
NM_033109.4:c.1123G>C	NP_149100.2:p.Asp375His
XM_005264629.1:c.883G>C	XP_005264686.1:p.Asp295His
XM_011533142.1:c.1123G>C	XP_011531444.1:p.Asp375His
XM_005264629.2:c.883G>C	XP_005264686.1:p.Asp295His
XM_017005172.1:c.883G>C	XP_016860661.1:p.Asp295His
XR_001739010.1:n.1153G>C
NM_033109.5:c.1123G>C MANE Select	NP_149100.2:p.Asp375His