Canonical Allele Identifier: CA2631743

Gene: PCCB

Linked Data

• ClinVar Variation Id: 343463
• ClinVar RCV Id: RCV000263351 ; RCV000437361 ; RCV002057841
• dbSNP Id: rs201986472
• ExAC: 3:135979384 G / A
• gnomAD v2: 3-135979384-G-A
• gnomAD v3: 3-136260542-G-A
• gnomAD v4: 3-136260542-G-A
• MyVariant Identifiers: chr3:g.135979384G>A (hg19) ; chr3:g.136260542G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136260542G>A , CM000665.2:g.136260542G>A	GRCh38
NC_000003.11:g.135979384G>A , CM000665.1:g.135979384G>A	GRCh37
NC_000003.10:g.137462074G>A	NCBI36
NG_008939.1:g.15218G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.429+7G>A MANE Select	ENSP00000251654.4:n.429+7G>A
ENST00000251654.8:c.429+7G>A	ENSP00000251654.4:n.429+7G>A
ENST00000459873.1:c.180+7G>A	ENSP00000419293.1:n.180+7G>A
ENST00000462542.5:c.296+7G>A
ENST00000462637.5:c.360+7G>A	ENSP00000420391.1:n.360+7G>A
ENST00000465176.5:n.391+7G>A
ENST00000465423.5:c.516+7G>A	ENSP00000419263.1:n.516+7G>A
ENST00000466072.5:c.429+7G>A	ENSP00000420158.1:n.429+7G>A
ENST00000468777.5:c.522+7G>A	ENSP00000419129.1:n.522+7G>A
ENST00000469217.5:c.489+7G>A	ENSP00000419027.1:n.489+7G>A
ENST00000471595.5:c.429+7G>A	ENSP00000417549.1:n.429+7G>A
ENST00000473073.1:n.386+7G>A
ENST00000474833.5:n.168+9984G>A
ENST00000475214.5:n.343+7G>A
ENST00000478469.5:c.429+7G>A	ENSP00000420759.1:n.429+7G>A
ENST00000482086.5:c.94-1422G>A	ENSP00000417253.1:n.94-1422G>A
ENST00000483687.5:c.373-1410G>A	ENSP00000420639.1:n.373-1410G>A
ENST00000484181.5:c.429+7G>A	ENSP00000417937.1:n.429+7G>A
ENST00000490504.5:c.372+3919G>A	ENSP00000418307.1:n.372+3919G>A
ENST00000494742.5:c.180+7G>A	ENSP00000418020.1:n.180+7G>A
NM_000532.4:c.429+7G>A	NP_000523.2:n.429+7G>A
NM_001178014.1:c.489+7G>A	NP_001171485.1:n.489+7G>A
XM_011512873.1:c.429+7G>A	XP_011511175.1:n.429+7G>A
XM_011512873.2:c.429+7G>A	XP_011511175.1:n.429+7G>A
NM_000532.5:c.429+7G>A MANE Select	NP_000523.2:n.429+7G>A
NM_001178014.2:c.489+7G>A	NP_001171485.1:n.489+7G>A