Canonical Allele Identifier: CA1053911441

Gene: PCCB

Linked Data

• dbSNP Id: rs1337590822
• gnomAD v3: 3-136262139-C-G
• gnomAD v4: 3-136262139-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262139C>G , CM000665.2:g.136262139C>G	GRCh38
NC_000003.11:g.135980981C>G , CM000665.1:g.135980981C>G	GRCh37
NC_000003.10:g.137463671C>G	NCBI36
NG_008939.1:g.16815C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.543+74C>G MANE Select	ENSP00000251654.4:n.543+74C>G
ENST00000251654.8:c.543+74C>G	ENSP00000251654.4:n.543+74C>G
ENST00000459873.1:c.294+74C>G	ENSP00000419293.1:n.294+74C>G
ENST00000462542.5:c.410+74C>G
ENST00000462637.5:c.474+74C>G	ENSP00000420391.1:n.474+74C>G
ENST00000465176.5:n.505+74C>G
ENST00000466072.5:c.543+74C>G	ENSP00000420158.1:n.543+74C>G
ENST00000468777.5:c.636+74C>G	ENSP00000419129.1:n.636+74C>G
ENST00000469217.5:c.603+74C>G	ENSP00000419027.1:n.603+74C>G
ENST00000471595.5:c.543+74C>G	ENSP00000417549.1:n.543+74C>G
ENST00000473073.1:n.500+74C>G
ENST00000474833.5:n.168+11581C>G
ENST00000475214.5:n.457+74C>G
ENST00000478469.5:c.543+74C>G	ENSP00000420759.1:n.543+74C>G
ENST00000482086.5:c.195+74C>G	ENSP00000417253.1:n.195+74C>G
ENST00000483687.5:c.486+74C>G	ENSP00000420639.1:n.486+74C>G
ENST00000484181.5:c.543+74C>G	ENSP00000417937.1:n.543+74C>G
ENST00000490504.5:c.372+5516C>G	ENSP00000418307.1:n.372+5516C>G
NM_000532.4:c.543+74C>G	NP_000523.2:n.543+74C>G
NM_001178014.1:c.603+74C>G	NP_001171485.1:n.603+74C>G
XM_011512873.1:c.543+74C>G	XP_011511175.1:n.543+74C>G
XM_011512873.2:c.543+74C>G	XP_011511175.1:n.543+74C>G
NM_000532.5:c.543+74C>G MANE Select	NP_000523.2:n.543+74C>G
NM_001178014.2:c.603+74C>G	NP_001171485.1:n.603+74C>G