Canonical Allele Identifier: CA346938913

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55908023C>G (hg19) ; chr2:g.55680888C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680888C>G , CM000664.2:g.55680888C>G	GRCh38
NC_000002.11:g.55908023C>G , CM000664.1:g.55908023C>G	GRCh37
NC_000002.10:g.55761527C>G	NCBI36
NG_033012.1:g.18023G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.484G>C MANE Select	ENSP00000400646.2:p.Val162Leu
ENST00000260604.8:c.484G>C	ENSP00000260604.4:p.Val162Leu
ENST00000415374.5:c.484G>C	ENSP00000393953.1:p.Val162Leu
ENST00000429805.1:c.*132G>C	ENSP00000411994.1:n.*132G>C
ENST00000447944.6:c.484G>C	ENSP00000400646.2:p.Val162Leu
NM_033109.4:c.484G>C	NP_149100.2:p.Val162Leu
XM_005264629.1:c.244G>C	XP_005264686.1:p.Val82Leu
XM_011533142.1:c.484G>C	XP_011531444.1:p.Val162Leu
XM_005264629.2:c.244G>C	XP_005264686.1:p.Val82Leu
XM_017005172.1:c.244G>C	XP_016860661.1:p.Val82Leu
XR_001739010.1:n.514G>C
NM_033109.5:c.484G>C MANE Select	NP_149100.2:p.Val162Leu