Canonical Allele Identifier: CA2667839522

Gene: PCCB

Linked Data

• ClinVar Variation Id: 2692850
• ClinVar RCV Id: RCV003512242
• gnomAD v4: 3-136262076-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262076T>C , CM000665.2:g.136262076T>C	GRCh38
NC_000003.11:g.135980918T>C , CM000665.1:g.135980918T>C	GRCh37
NC_000003.10:g.137463608T>C	NCBI36
NG_008939.1:g.16752T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.543+11T>C MANE Select	ENSP00000251654.4:n.543+11T>C
ENST00000251654.8:c.543+11T>C	ENSP00000251654.4:n.543+11T>C
ENST00000459873.1:c.294+11T>C	ENSP00000419293.1:n.294+11T>C
ENST00000462542.5:c.410+11T>C
ENST00000462637.5:c.474+11T>C	ENSP00000420391.1:n.474+11T>C
ENST00000465176.5:n.505+11T>C
ENST00000466072.5:c.543+11T>C	ENSP00000420158.1:n.543+11T>C
ENST00000468777.5:c.636+11T>C	ENSP00000419129.1:n.636+11T>C
ENST00000469217.5:c.603+11T>C	ENSP00000419027.1:n.603+11T>C
ENST00000471595.5:c.543+11T>C	ENSP00000417549.1:n.543+11T>C
ENST00000473073.1:n.500+11T>C
ENST00000474833.5:n.168+11518T>C
ENST00000475214.5:n.457+11T>C
ENST00000478469.5:c.543+11T>C	ENSP00000420759.1:n.543+11T>C
ENST00000482086.5:c.195+11T>C	ENSP00000417253.1:n.195+11T>C
ENST00000483687.5:c.486+11T>C	ENSP00000420639.1:n.486+11T>C
ENST00000484181.5:c.543+11T>C	ENSP00000417937.1:n.543+11T>C
ENST00000490504.5:c.372+5453T>C	ENSP00000418307.1:n.372+5453T>C
NM_000532.4:c.543+11T>C	NP_000523.2:n.543+11T>C
NM_001178014.1:c.603+11T>C	NP_001171485.1:n.603+11T>C
XM_011512873.1:c.543+11T>C	XP_011511175.1:n.543+11T>C
XM_011512873.2:c.543+11T>C	XP_011511175.1:n.543+11T>C
NM_000532.5:c.543+11T>C MANE Select	NP_000523.2:n.543+11T>C
NM_001178014.2:c.603+11T>C	NP_001171485.1:n.603+11T>C