Canonical Allele Identifier: CA10575809

Gene: PCCB

Linked Data

• ClinVar Variation Id: 217892
• ClinVar RCV Id: RCV000236940
• dbSNP Id: rs879253814
• MyVariant Identifiers: chr3:g.135975467T>C (hg19) ; chr3:g.136256625T>C (hg38)
• PubMed: PMID:27227689

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136256625T>C , CM000665.2:g.136256625T>C	GRCh38
NC_000003.11:g.135975467T>C , CM000665.1:g.135975467T>C	GRCh37
NC_000003.10:g.137458157T>C	NCBI36
NG_008939.1:g.11301T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.372+2T>C MANE Select	ENSP00000251654.4:n.372+2T>C
ENST00000251654.8:c.372+2T>C	ENSP00000251654.4:n.372+2T>C
ENST00000459873.1:c.123+2T>C	ENSP00000419293.1:n.123+2T>C
ENST00000462542.5:c.239+2T>C
ENST00000462637.5:c.303+650T>C	ENSP00000420391.1:n.303+650T>C
ENST00000465176.5:n.334+2T>C
ENST00000465423.5:c.459+2T>C	ENSP00000419263.1:n.459+2T>C
ENST00000466072.5:c.372+2T>C	ENSP00000420158.1:n.372+2T>C
ENST00000468777.5:c.372+2T>C	ENSP00000419129.1:n.372+2T>C
ENST00000469217.5:c.372+2T>C	ENSP00000419027.1:n.372+2T>C
ENST00000471595.5:c.372+2T>C	ENSP00000417549.1:n.372+2T>C
ENST00000474833.5:n.168+6067T>C
ENST00000475214.5:n.286+2T>C
ENST00000478469.5:c.372+2T>C	ENSP00000420759.1:n.372+2T>C
ENST00000482086.5:c.94-5339T>C	ENSP00000417253.1:n.94-5339T>C
ENST00000483687.5:c.372+2T>C	ENSP00000420639.1:n.372+2T>C
ENST00000484181.5:c.372+2T>C	ENSP00000417937.1:n.372+2T>C
ENST00000490504.5:c.372+2T>C	ENSP00000418307.1:n.372+2T>C
ENST00000494742.5:c.123+2T>C	ENSP00000418020.1:n.123+2T>C
NM_000532.4:c.372+2T>C	NP_000523.2:n.372+2T>C
NM_001178014.1:c.372+2T>C	NP_001171485.1:n.372+2T>C
XM_011512873.1:c.372+2T>C	XP_011511175.1:n.372+2T>C
XM_011512873.2:c.372+2T>C	XP_011511175.1:n.372+2T>C
NM_000532.5:c.372+2T>C MANE Select	NP_000523.2:n.372+2T>C
NM_001178014.2:c.372+2T>C	NP_001171485.1:n.372+2T>C