Canonical Allele Identifier: CA221097

Gene: PCCB

Linked Data

• ClinVar Variation Id: 38881
• ClinVar RCV Id: RCV000032130 ; RCV000790698
• dbSNP Id: rs202247823
• ExAC: 3:136048854 A / G
• gnomAD v2: 3-136048854-A-G
• gnomAD v3: 3-136330012-A-G
• gnomAD v4: 3-136330012-A-G
• MyVariant Identifiers: chr3:g.136048854A>G (hg19) ; chr3:g.136330012A>G (hg38)
• PubMed: PMID:22593918 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136330012A>G , CM000665.2:g.136330012A>G	GRCh38
NC_000003.11:g.136048854A>G , CM000665.1:g.136048854A>G	GRCh37
NC_000003.10:g.137531544A>G	NCBI36
NG_008939.1:g.84688A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.1606A>G MANE Select	ENSP00000251654.4:p.Asn536Asp
ENST00000251654.8:c.1606A>G	ENSP00000251654.4:p.Asn536Asp
ENST00000462637.5:c.1537A>G	ENSP00000420391.1:p.Asn513Asp
ENST00000466072.5:c.1666A>G	ENSP00000420158.1:p.Asn556Asp
ENST00000468777.5:c.1699A>G	ENSP00000419129.1:p.Asn567Asp
ENST00000469217.5:c.1666A>G	ENSP00000419027.1:p.Asn556Asp
ENST00000471595.5:c.1578+28A>G	ENSP00000417549.1:n.1578+28A>G
ENST00000473073.1:n.1807A>G
ENST00000478469.5:c.885-4268A>G	ENSP00000420759.1:n.885-4268A>G
ENST00000482086.5:c.1258A>G	ENSP00000417253.1:p.Asn420Asp
ENST00000483687.5:c.1549A>G	ENSP00000420639.1:p.Asn517Asp
ENST00000484181.5:c.*287A>G	ENSP00000417937.1:n.*287A>G
ENST00000490504.5:c.1435A>G	ENSP00000418307.1:p.Asn479Asp
NM_000532.4:c.1606A>G	NP_000523.2:p.Asn536Asp
NM_001178014.1:c.1666A>G	NP_001171485.1:p.Asn556Asp
NM_000532.5:c.1606A>G MANE Select	NP_000523.2:p.Asn536Asp
NM_001178014.2:c.1666A>G	NP_001171485.1:p.Asn556Asp