Canonical Allele Identifier: CA341174
Gene: PCCB HGNC NCBI

Linked Data

ClinVar Variation Id: 12016
ClinVar RCV Id: RCV000012796
dbSNP Id: rs111033542

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136327239C>T , CM000665.2:g.136327239C>T GRCh38
NC_000003.11:g.136046081C>T , CM000665.1:g.136046081C>T GRCh37
NC_000003.10:g.137528771C>T NCBI36
NG_008939.1:g.81915C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251654.9:c.1283C>T MANE Select ENSP00000251654.4:p.Thr428Ile
ENST00000251654.8:c.1283C>T ENSP00000251654.4:p.Thr428Ile
ENST00000462637.5:c.1214C>T ENSP00000420391.1:p.Thr405Ile
ENST00000466072.5:c.1343C>T ENSP00000420158.1:p.Thr448Ile
ENST00000468777.5:c.1376C>T ENSP00000419129.1:p.Thr459Ile
ENST00000469217.5:c.1343C>T ENSP00000419027.1:p.Thr448Ile
ENST00000471595.5:c.1283C>T ENSP00000417549.1:p.Thr428Ile
ENST00000473073.1:n.1484C>T
ENST00000474833.5:n.823+329C>T
ENST00000478469.5:c.885-7041C>T ENSP00000420759.1:n.885-7041C>T
ENST00000482086.5:c.935C>T ENSP00000417253.1:p.Thr312Ile
ENST00000483687.5:c.1226C>T ENSP00000420639.1:p.Thr409Ile
ENST00000484181.5:c.1198+329C>T ENSP00000417937.1:n.1198+329C>T
ENST00000490504.5:c.1112C>T ENSP00000418307.1:p.Thr371Ile
NM_000532.4:c.1283C>T NP_000523.2:p.Thr428Ile
NM_001178014.1:c.1343C>T NP_001171485.1:p.Thr448Ile
NM_000532.5:c.1283C>T MANE Select NP_000523.2:p.Thr428Ile
NM_001178014.2:c.1343C>T NP_001171485.1:p.Thr448Ile