Canonical Allele Identifier: CA354739686

Gene: PCCB

Linked Data

• ClinVar Variation Id: 2677518
• ClinVar RCV Id: RCV003463230
• MyVariant Identifiers: chr3:g.135980858G>C (hg19) ; chr3:g.136262016G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262016G>C , CM000665.2:g.136262016G>C	GRCh38
NC_000003.11:g.135980858G>C , CM000665.1:g.135980858G>C	GRCh37
NC_000003.10:g.137463548G>C	NCBI36
NG_008939.1:g.16692G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.494G>C MANE Select	ENSP00000251654.4:p.Arg165Pro
ENST00000251654.8:c.494G>C	ENSP00000251654.4:p.Arg165Pro
ENST00000459873.1:c.245G>C	ENSP00000419293.1:p.Arg82Pro
ENST00000462542.5:c.361G>C
ENST00000462637.5:c.425G>C	ENSP00000420391.1:p.Arg142Pro
ENST00000465176.5:n.456G>C
ENST00000466072.5:c.494G>C	ENSP00000420158.1:p.Arg165Pro
ENST00000468777.5:c.587G>C	ENSP00000419129.1:p.Arg196Pro
ENST00000469217.5:c.554G>C	ENSP00000419027.1:p.Arg185Pro
ENST00000471595.5:c.494G>C	ENSP00000417549.1:p.Arg165Pro
ENST00000473073.1:n.451G>C
ENST00000474833.5:n.168+11458G>C
ENST00000475214.5:n.408G>C
ENST00000478469.5:c.494G>C	ENSP00000420759.1:p.Arg165Pro
ENST00000482086.5:c.146G>C	ENSP00000417253.1:p.Arg49Pro
ENST00000483687.5:c.437G>C	ENSP00000420639.1:p.Arg146Pro
ENST00000484181.5:c.494G>C	ENSP00000417937.1:p.Arg165Pro
ENST00000490504.5:c.372+5393G>C	ENSP00000418307.1:n.372+5393G>C
ENST00000494742.5:c.245G>C	ENSP00000418020.1:p.Arg82Pro
NM_000532.4:c.494G>C	NP_000523.2:p.Arg165Pro
NM_001178014.1:c.554G>C	NP_001171485.1:p.Arg185Pro
XM_011512873.1:c.494G>C	XP_011511175.1:p.Arg165Pro
XM_011512873.2:c.494G>C	XP_011511175.1:p.Arg165Pro
NM_000532.5:c.494G>C MANE Select	NP_000523.2:p.Arg165Pro
NM_001178014.2:c.554G>C	NP_001171485.1:p.Arg185Pro