Canonical Allele Identifier: CA354739594

Gene: PCCB

Linked Data

• ClinVar Variation Id: 1008157
• ClinVar RCV Id: RCV001305446
• dbSNP Id: rs1468203736
• gnomAD v2: 3-135980824-C-T
• gnomAD v4: 3-136261982-C-T
• MyVariant Identifiers: chr3:g.135980824C>T (hg19) ; chr3:g.136261982C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261982C>T , CM000665.2:g.136261982C>T	GRCh38
NC_000003.11:g.135980824C>T , CM000665.1:g.135980824C>T	GRCh37
NC_000003.10:g.137463514C>T	NCBI36
NG_008939.1:g.16658C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.460C>T MANE Select	ENSP00000251654.4:p.Pro154Ser
ENST00000251654.8:c.460C>T	ENSP00000251654.4:p.Pro154Ser
ENST00000459873.1:c.211C>T	ENSP00000419293.1:p.Pro71Ser
ENST00000462542.5:c.327C>T
ENST00000462637.5:c.391C>T	ENSP00000420391.1:p.Pro131Ser
ENST00000465176.5:n.422C>T
ENST00000465423.5:c.547C>T	ENSP00000419263.1:p.Pro183Ser
ENST00000466072.5:c.460C>T	ENSP00000420158.1:p.Pro154Ser
ENST00000468777.5:c.553C>T	ENSP00000419129.1:p.Pro185Ser
ENST00000469217.5:c.520C>T	ENSP00000419027.1:p.Pro174Ser
ENST00000471595.5:c.460C>T	ENSP00000417549.1:p.Pro154Ser
ENST00000473073.1:n.417C>T
ENST00000474833.5:n.168+11424C>T
ENST00000475214.5:n.374C>T
ENST00000478469.5:c.460C>T	ENSP00000420759.1:p.Pro154Ser
ENST00000482086.5:c.112C>T	ENSP00000417253.1:p.Pro38Ser
ENST00000483687.5:c.403C>T	ENSP00000420639.1:p.Pro135Ser
ENST00000484181.5:c.460C>T	ENSP00000417937.1:p.Pro154Ser
ENST00000490504.5:c.372+5359C>T	ENSP00000418307.1:n.372+5359C>T
ENST00000494742.5:c.211C>T	ENSP00000418020.1:p.Pro71Ser
NM_000532.4:c.460C>T	NP_000523.2:p.Pro154Ser
NM_001178014.1:c.520C>T	NP_001171485.1:p.Pro174Ser
XM_011512873.1:c.460C>T	XP_011511175.1:p.Pro154Ser
XM_011512873.2:c.460C>T	XP_011511175.1:p.Pro154Ser
NM_000532.5:c.460C>T MANE Select	NP_000523.2:p.Pro154Ser
NM_001178014.2:c.520C>T	NP_001171485.1:p.Pro174Ser