Canonical Allele Identifier: CA354650080

Gene: PCCB

Linked Data

• dbSNP Id: rs1234908096
• gnomAD v2: 3-136048795-G-C
• gnomAD v4: 3-136329953-G-C
• MyVariant Identifiers: chr3:g.136048795G>C (hg19) ; chr3:g.136329953G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329953G>C , CM000665.2:g.136329953G>C	GRCh38
NC_000003.11:g.136048795G>C , CM000665.1:g.136048795G>C	GRCh37
NC_000003.10:g.137531485G>C	NCBI36
NG_008939.1:g.84629G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1547G>C MANE Select	ENSP00000251654.4:p.Cys516Ser
ENST00000251654.8:c.1547G>C	ENSP00000251654.4:p.Cys516Ser
ENST00000462637.5:c.1478G>C	ENSP00000420391.1:p.Cys493Ser
ENST00000466072.5:c.1607G>C	ENSP00000420158.1:p.Cys536Ser
ENST00000468777.5:c.1640G>C	ENSP00000419129.1:p.Cys547Ser
ENST00000469217.5:c.1607G>C	ENSP00000419027.1:p.Cys536Ser
ENST00000471595.5:c.1547G>C	ENSP00000417549.1:p.Cys516Ser
ENST00000473073.1:n.1748G>C
ENST00000478469.5:c.885-4327G>C	ENSP00000420759.1:n.885-4327G>C
ENST00000482086.5:c.1199G>C	ENSP00000417253.1:p.Cys400Ser
ENST00000483687.5:c.1490G>C	ENSP00000420639.1:p.Cys497Ser
ENST00000484181.5:c.*228G>C	ENSP00000417937.1:n.*228G>C
ENST00000490504.5:c.1376G>C	ENSP00000418307.1:p.Cys459Ser
NM_000532.4:c.1547G>C	NP_000523.2:p.Cys516Ser
NM_001178014.1:c.1607G>C	NP_001171485.1:p.Cys536Ser
NM_000532.5:c.1547G>C MANE Select	NP_000523.2:p.Cys516Ser
NM_001178014.2:c.1607G>C	NP_001171485.1:p.Cys536Ser