Canonical Allele Identifier: CA341178

Gene: PCCB

Linked Data

• ClinVar Variation Id: 12018
• ClinVar RCV Id: RCV000012798
• dbSNP Id: rs121964961
• ExAC: 3:136046480 A / G
• gnomAD v2: 3-136046480-A-G
• gnomAD v3: 3-136327638-A-G
• gnomAD v4: 3-136327638-A-G
• MyVariant Identifiers: chr3:g.136046480A>G (hg19) ; chr3:g.136327638A>G (hg38)
• PubMed: PMID:12189489 ; PMID:15059621 ; PMID:22593918 ; PMID:25087612

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327638A>G , CM000665.2:g.136327638A>G	GRCh38
NC_000003.11:g.136046480A>G , CM000665.1:g.136046480A>G	GRCh37
NC_000003.10:g.137529170A>G	NCBI36
NG_008939.1:g.82314A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.1304A>G MANE Select	ENSP00000251654.4:p.Tyr435Cys
ENST00000251654.8:c.1304A>G	ENSP00000251654.4:p.Tyr435Cys
ENST00000462637.5:c.1235A>G	ENSP00000420391.1:p.Tyr412Cys
ENST00000466072.5:c.1364A>G	ENSP00000420158.1:p.Tyr455Cys
ENST00000468777.5:c.1397A>G	ENSP00000419129.1:p.Tyr466Cys
ENST00000469217.5:c.1364A>G	ENSP00000419027.1:p.Tyr455Cys
ENST00000471595.5:c.1304A>G	ENSP00000417549.1:p.Tyr435Cys
ENST00000473073.1:n.1505A>G
ENST00000474833.5:n.828A>G
ENST00000478469.5:c.885-6642A>G	ENSP00000420759.1:n.885-6642A>G
ENST00000482086.5:c.956A>G	ENSP00000417253.1:p.Tyr319Cys
ENST00000483687.5:c.1247A>G	ENSP00000420639.1:p.Tyr416Cys
ENST00000484181.5:c.1203A>G	ENSP00000417937.1:p.Leu401=
ENST00000490504.5:c.1133A>G	ENSP00000418307.1:p.Tyr378Cys
NM_000532.4:c.1304A>G	NP_000523.2:p.Tyr435Cys
NM_001178014.1:c.1364A>G	NP_001171485.1:p.Tyr455Cys
NM_000532.5:c.1304A>G MANE Select	NP_000523.2:p.Tyr435Cys
NM_001178014.2:c.1364A>G	NP_001171485.1:p.Tyr455Cys