Canonical Allele Identifier: CA346925839
Gene: PNPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55647351A>C , CM000664.2:g.55647351A>C GRCh38
NC_000002.11:g.55874486A>C , CM000664.1:g.55874486A>C GRCh37
NC_000002.10:g.55727990A>C NCBI36
NG_033012.1:g.51560T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.1598T>G MANE Select ENSP00000400646.2:p.Ile533Ser
ENST00000260604.8:c.*1153T>G ENSP00000260604.4:n.*1153T>G
ENST00000415374.5:c.1598T>G ENSP00000393953.1:p.Ile533Ser
ENST00000447944.6:c.1598T>G ENSP00000400646.2:p.Ile533Ser
ENST00000481066.1:n.32T>G
NM_033109.4:c.1598T>G NP_149100.2:p.Ile533Ser
XM_005264629.1:c.1358T>G XP_005264686.1:p.Ile453Ser
XM_005264629.2:c.1358T>G XP_005264686.1:p.Ile453Ser
XM_017005172.1:c.1358T>G XP_016860661.1:p.Ile453Ser
XR_001739010.1:n.1675T>G
NM_033109.5:c.1598T>G MANE Select NP_149100.2:p.Ile533Ser