Canonical Allele Identifier: CA354650074

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136048794T>C (hg19) ; chr3:g.136329952T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329952T>C , CM000665.2:g.136329952T>C	GRCh38
NC_000003.11:g.136048794T>C , CM000665.1:g.136048794T>C	GRCh37
NC_000003.10:g.137531484T>C	NCBI36
NG_008939.1:g.84628T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1546T>C MANE Select	ENSP00000251654.4:p.Cys516Arg
ENST00000251654.8:c.1546T>C	ENSP00000251654.4:p.Cys516Arg
ENST00000462637.5:c.1477T>C	ENSP00000420391.1:p.Cys493Arg
ENST00000466072.5:c.1606T>C	ENSP00000420158.1:p.Cys536Arg
ENST00000468777.5:c.1639T>C	ENSP00000419129.1:p.Cys547Arg
ENST00000469217.5:c.1606T>C	ENSP00000419027.1:p.Cys536Arg
ENST00000471595.5:c.1546T>C	ENSP00000417549.1:p.Cys516Arg
ENST00000473073.1:n.1747T>C
ENST00000478469.5:c.885-4328T>C	ENSP00000420759.1:n.885-4328T>C
ENST00000482086.5:c.1198T>C	ENSP00000417253.1:p.Cys400Arg
ENST00000483687.5:c.1489T>C	ENSP00000420639.1:p.Cys497Arg
ENST00000484181.5:c.*227T>C	ENSP00000417937.1:n.*227T>C
ENST00000490504.5:c.1375T>C	ENSP00000418307.1:p.Cys459Arg
NM_000532.4:c.1546T>C	NP_000523.2:p.Cys516Arg
NM_001178014.1:c.1606T>C	NP_001171485.1:p.Cys536Arg
NM_000532.5:c.1546T>C MANE Select	NP_000523.2:p.Cys516Arg
NM_001178014.2:c.1606T>C	NP_001171485.1:p.Cys536Arg