Canonical Allele Identifier: CA343145
Gene: PCCB HGNC NCBI

Linked Data

ClinVar Variation Id: 38884
ClinVar RCV Id: RCV000032133
dbSNP Id: rs202247819

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136261979G>C , CM000665.2:g.136261979G>C GRCh38
NC_000003.11:g.135980821G>C , CM000665.1:g.135980821G>C GRCh37
NC_000003.10:g.137463511G>C NCBI36
NG_008939.1:g.16655G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251654.9:c.457G>C MANE Select ENSP00000251654.4:p.Ala153Pro
ENST00000251654.8:c.457G>C ENSP00000251654.4:p.Ala153Pro
ENST00000459873.1:c.208G>C ENSP00000419293.1:p.Ala70Pro
ENST00000462542.5:c.324G>C
ENST00000462637.5:c.388G>C ENSP00000420391.1:p.Ala130Pro
ENST00000465176.5:n.419G>C
ENST00000465423.5:c.544G>C ENSP00000419263.1:p.Ala182Pro
ENST00000466072.5:c.457G>C ENSP00000420158.1:p.Ala153Pro
ENST00000468777.5:c.550G>C ENSP00000419129.1:p.Ala184Pro
ENST00000469217.5:c.517G>C ENSP00000419027.1:p.Ala173Pro
ENST00000471595.5:c.457G>C ENSP00000417549.1:p.Ala153Pro
ENST00000473073.1:n.414G>C
ENST00000474833.5:n.168+11421G>C
ENST00000475214.5:n.371G>C
ENST00000478469.5:c.457G>C ENSP00000420759.1:p.Ala153Pro
ENST00000482086.5:c.109G>C ENSP00000417253.1:p.Ala37Pro
ENST00000483687.5:c.400G>C ENSP00000420639.1:p.Ala134Pro
ENST00000484181.5:c.457G>C ENSP00000417937.1:p.Ala153Pro
ENST00000490504.5:c.372+5356G>C ENSP00000418307.1:n.372+5356G>C
ENST00000494742.5:c.208G>C ENSP00000418020.1:p.Ala70Pro
NM_000532.4:c.457G>C NP_000523.2:p.Ala153Pro
NM_001178014.1:c.517G>C NP_001171485.1:p.Ala173Pro
XM_011512873.1:c.457G>C XP_011511175.1:p.Ala153Pro
XM_011512873.2:c.457G>C XP_011511175.1:p.Ala153Pro
NM_000532.5:c.457G>C MANE Select NP_000523.2:p.Ala153Pro
NM_001178014.2:c.517G>C NP_001171485.1:p.Ala173Pro