Canonical Allele Identifier: CA354739593
Gene: PCCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136261982C>G , CM000665.2:g.136261982C>G GRCh38
NC_000003.11:g.135980824C>G , CM000665.1:g.135980824C>G GRCh37
NC_000003.10:g.137463514C>G NCBI36
NG_008939.1:g.16658C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000251654.9:c.460C>G MANE Select ENSP00000251654.4:p.Pro154Ala
ENST00000251654.8:c.460C>G ENSP00000251654.4:p.Pro154Ala
ENST00000459873.1:c.211C>G ENSP00000419293.1:p.Pro71Ala
ENST00000462542.5:c.327C>G
ENST00000462637.5:c.391C>G ENSP00000420391.1:p.Pro131Ala
ENST00000465176.5:n.422C>G
ENST00000465423.5:c.547C>G ENSP00000419263.1:p.Pro183Ala
ENST00000466072.5:c.460C>G ENSP00000420158.1:p.Pro154Ala
ENST00000468777.5:c.553C>G ENSP00000419129.1:p.Pro185Ala
ENST00000469217.5:c.520C>G ENSP00000419027.1:p.Pro174Ala
ENST00000471595.5:c.460C>G ENSP00000417549.1:p.Pro154Ala
ENST00000473073.1:n.417C>G
ENST00000474833.5:n.168+11424C>G
ENST00000475214.5:n.374C>G
ENST00000478469.5:c.460C>G ENSP00000420759.1:p.Pro154Ala
ENST00000482086.5:c.112C>G ENSP00000417253.1:p.Pro38Ala
ENST00000483687.5:c.403C>G ENSP00000420639.1:p.Pro135Ala
ENST00000484181.5:c.460C>G ENSP00000417937.1:p.Pro154Ala
ENST00000490504.5:c.372+5359C>G ENSP00000418307.1:n.372+5359C>G
ENST00000494742.5:c.211C>G ENSP00000418020.1:p.Pro71Ala
NM_000532.4:c.460C>G NP_000523.2:p.Pro154Ala
NM_001178014.1:c.520C>G NP_001171485.1:p.Pro174Ala
XM_011512873.1:c.460C>G XP_011511175.1:p.Pro154Ala
XM_011512873.2:c.460C>G XP_011511175.1:p.Pro154Ala
NM_000532.5:c.460C>G MANE Select NP_000523.2:p.Pro154Ala
NM_001178014.2:c.520C>G NP_001171485.1:p.Pro174Ala