Canonical Allele Identifier: CA10575811

Gene: PCCB

Linked Data

• ClinVar Variation Id: 217895
• ClinVar RCV Id: RCV000237038
• dbSNP Id: rs879253816
• gnomAD v4: 3-136328859-T-C
• MyVariant Identifiers: chr3:g.136047701T>C (hg19) ; chr3:g.136328859T>C (hg38)
• PubMed: PMID:27227689

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136328859T>C , CM000665.2:g.136328859T>C	GRCh38
NC_000003.11:g.136047701T>C , CM000665.1:g.136047701T>C	GRCh37
NC_000003.10:g.137530391T>C	NCBI36
NG_008939.1:g.83535T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.1498+2T>C MANE Select	ENSP00000251654.4:n.1498+2T>C
ENST00000251654.8:c.1498+2T>C	ENSP00000251654.4:n.1498+2T>C
ENST00000462637.5:c.1429+2T>C	ENSP00000420391.1:n.1429+2T>C
ENST00000466072.5:c.1558+2T>C	ENSP00000420158.1:n.1558+2T>C
ENST00000468777.5:c.1591+2T>C	ENSP00000419129.1:n.1591+2T>C
ENST00000469217.5:c.1558+2T>C	ENSP00000419027.1:n.1558+2T>C
ENST00000471595.5:c.1498+2T>C	ENSP00000417549.1:n.1498+2T>C
ENST00000473073.1:n.1699+2T>C
ENST00000478469.5:c.885-5421T>C	ENSP00000420759.1:n.885-5421T>C
ENST00000482086.5:c.1150+2T>C	ENSP00000417253.1:n.1150+2T>C
ENST00000483687.5:c.1441+2T>C	ENSP00000420639.1:n.1441+2T>C
ENST00000484181.5:c.*179+2T>C	ENSP00000417937.1:n.*179+2T>C
ENST00000490504.5:c.1327+2T>C	ENSP00000418307.1:n.1327+2T>C
NM_000532.4:c.1498+2T>C	NP_000523.2:n.1498+2T>C
NM_001178014.1:c.1558+2T>C	NP_001171485.1:n.1558+2T>C
NM_000532.5:c.1498+2T>C MANE Select	NP_000523.2:n.1498+2T>C
NM_001178014.2:c.1558+2T>C	NP_001171485.1:n.1558+2T>C