Canonical Allele Identifier: CA2659134370

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55680819-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680819T>C , CM000664.2:g.55680819T>C	GRCh38
NC_000002.11:g.55907954T>C , CM000664.1:g.55907954T>C	GRCh37
NC_000002.10:g.55761458T>C	NCBI36
NG_033012.1:g.18092A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.517+36A>G MANE Select	ENSP00000400646.2:n.517+36A>G
ENST00000260604.8:c.*13A>G	ENSP00000260604.4:n.*13A>G
ENST00000415374.5:c.517+36A>G	ENSP00000393953.1:n.517+36A>G
ENST00000429805.1:c.*165+36A>G	ENSP00000411994.1:n.*165+36A>G
ENST00000447944.6:c.517+36A>G	ENSP00000400646.2:n.517+36A>G
NM_033109.4:c.517+36A>G	NP_149100.2:n.517+36A>G
XM_005264629.1:c.277+36A>G	XP_005264686.1:n.277+36A>G
XM_011533142.1:c.517+36A>G	XP_011531444.1:n.517+36A>G
XM_005264629.2:c.277+36A>G	XP_005264686.1:n.277+36A>G
XM_017005172.1:c.277+36A>G	XP_016860661.1:n.277+36A>G
XR_001739010.1:n.547+36A>G
NM_033109.5:c.517+36A>G MANE Select	NP_149100.2:n.517+36A>G