Canonical Allele Identifier: CA354650070
Gene: PCCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136329951C>G , CM000665.2:g.136329951C>G GRCh38
NC_000003.11:g.136048793C>G , CM000665.1:g.136048793C>G GRCh37
NC_000003.10:g.137531483C>G NCBI36
NG_008939.1:g.84627C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000251654.9:c.1545C>G MANE Select ENSP00000251654.4:p.Ile515Met
ENST00000251654.8:c.1545C>G ENSP00000251654.4:p.Ile515Met
ENST00000462637.5:c.1476C>G ENSP00000420391.1:p.Ile492Met
ENST00000466072.5:c.1605C>G ENSP00000420158.1:p.Ile535Met
ENST00000468777.5:c.1638C>G ENSP00000419129.1:p.Ile546Met
ENST00000469217.5:c.1605C>G ENSP00000419027.1:p.Ile535Met
ENST00000471595.5:c.1545C>G ENSP00000417549.1:p.Ile515Met
ENST00000473073.1:n.1746C>G
ENST00000478469.5:c.885-4329C>G ENSP00000420759.1:n.885-4329C>G
ENST00000482086.5:c.1197C>G ENSP00000417253.1:p.Ile399Met
ENST00000483687.5:c.1488C>G ENSP00000420639.1:p.Ile496Met
ENST00000484181.5:c.*226C>G ENSP00000417937.1:n.*226C>G
ENST00000490504.5:c.1374C>G ENSP00000418307.1:p.Ile458Met
NM_000532.4:c.1545C>G NP_000523.2:p.Ile515Met
NM_001178014.1:c.1605C>G NP_001171485.1:p.Ile535Met
NM_000532.5:c.1545C>G MANE Select NP_000523.2:p.Ile515Met
NM_001178014.2:c.1605C>G NP_001171485.1:p.Ile535Met