Canonical Allele Identifier: CA346938955

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 1975443
• ClinVar RCV Id: RCV002755679
• dbSNP Id: rs1462528617
• gnomAD v2: 2-55908046-C-T
• gnomAD v4: 2-55680911-C-T
• MyVariant Identifiers: chr2:g.55908046C>T (hg19) ; chr2:g.55680911C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680911C>T , CM000664.2:g.55680911C>T	GRCh38
NC_000002.11:g.55908046C>T , CM000664.1:g.55908046C>T	GRCh37
NC_000002.10:g.55761550C>T	NCBI36
NG_033012.1:g.18000G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.461G>A MANE Select	ENSP00000400646.2:p.Cys154Tyr
ENST00000260604.8:c.461G>A	ENSP00000260604.4:p.Cys154Tyr
ENST00000415374.5:c.461G>A	ENSP00000393953.1:p.Cys154Tyr
ENST00000429805.1:c.*109G>A	ENSP00000411994.1:n.*109G>A
ENST00000447944.6:c.461G>A	ENSP00000400646.2:p.Cys154Tyr
NM_033109.4:c.461G>A	NP_149100.2:p.Cys154Tyr
XM_005264629.1:c.221G>A	XP_005264686.1:p.Cys74Tyr
XM_011533142.1:c.461G>A	XP_011531444.1:p.Cys154Tyr
XM_005264629.2:c.221G>A	XP_005264686.1:p.Cys74Tyr
XM_017005172.1:c.221G>A	XP_016860661.1:p.Cys74Tyr
XR_001739010.1:n.491G>A
NM_033109.5:c.461G>A MANE Select	NP_149100.2:p.Cys154Tyr