Canonical Allele Identifier: CA2631758

Gene: PCCB

Linked Data

• ClinVar Variation Id: 529437
• ClinVar RCV Id: RCV000634872 ; RCV001193212
• dbSNP Id: rs754752068
• ExAC: 3:135980848 G / T
• gnomAD v2: 3-135980848-G-T
• gnomAD v3: 3-136262006-G-T
• gnomAD v4: 3-136262006-G-T
• MyVariant Identifiers: chr3:g.135980848G>T (hg19) ; chr3:g.136262006G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262006G>T , CM000665.2:g.136262006G>T	GRCh38
NC_000003.11:g.135980848G>T , CM000665.1:g.135980848G>T	GRCh37
NC_000003.10:g.137463538G>T	NCBI36
NG_008939.1:g.16682G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.484G>T MANE Select	ENSP00000251654.4:p.Gly162Trp
ENST00000251654.8:c.484G>T	ENSP00000251654.4:p.Gly162Trp
ENST00000459873.1:c.235G>T	ENSP00000419293.1:p.Gly79Trp
ENST00000462542.5:c.351G>T
ENST00000462637.5:c.415G>T	ENSP00000420391.1:p.Gly139Trp
ENST00000465176.5:n.446G>T
ENST00000465423.5:c.571G>T	ENSP00000419263.1:p.Gly191Trp
ENST00000466072.5:c.484G>T	ENSP00000420158.1:p.Gly162Trp
ENST00000468777.5:c.577G>T	ENSP00000419129.1:p.Gly193Trp
ENST00000469217.5:c.544G>T	ENSP00000419027.1:p.Gly182Trp
ENST00000471595.5:c.484G>T	ENSP00000417549.1:p.Gly162Trp
ENST00000473073.1:n.441G>T
ENST00000474833.5:n.168+11448G>T
ENST00000475214.5:n.398G>T
ENST00000478469.5:c.484G>T	ENSP00000420759.1:p.Gly162Trp
ENST00000482086.5:c.136G>T	ENSP00000417253.1:p.Gly46Trp
ENST00000483687.5:c.427G>T	ENSP00000420639.1:p.Gly143Trp
ENST00000484181.5:c.484G>T	ENSP00000417937.1:p.Gly162Trp
ENST00000490504.5:c.372+5383G>T	ENSP00000418307.1:n.372+5383G>T
ENST00000494742.5:c.235G>T	ENSP00000418020.1:p.Gly79Trp
NM_000532.4:c.484G>T	NP_000523.2:p.Gly162Trp
NM_001178014.1:c.544G>T	NP_001171485.1:p.Gly182Trp
XM_011512873.1:c.484G>T	XP_011511175.1:p.Gly162Trp
XM_011512873.2:c.484G>T	XP_011511175.1:p.Gly162Trp
NM_000532.5:c.484G>T MANE Select	NP_000523.2:p.Gly162Trp
NM_001178014.2:c.544G>T	NP_001171485.1:p.Gly182Trp