Canonical Allele Identifier: CA2632093
Gene: PCCB HGNC NCBI

Linked Data

ClinVar Variation Id: 217891
ClinVar RCV Id: RCV000235547
dbSNP Id: rs777027944
ExAC: 3:136046008 G / A
gnomAD v2: 3-136046008-G-A
gnomAD v4: 3-136327166-G-A
MyVariant Identifiers: chr3:g.136046008G>A (hg19) chr3:g.136327166G>A (hg38)
PubMed: PMID:27227689
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136327166G>A , CM000665.2:g.136327166G>A GRCh38
NC_000003.11:g.136046008G>A , CM000665.1:g.136046008G>A GRCh37
NC_000003.10:g.137528698G>A NCBI36
NG_008939.1:g.81842G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251654.9:c.1210G>A MANE Select ENSP00000251654.4:p.Glu404Lys
ENST00000251654.8:c.1210G>A ENSP00000251654.4:p.Glu404Lys
ENST00000462637.5:c.1141G>A ENSP00000420391.1:p.Glu381Lys
ENST00000466072.5:c.1270G>A ENSP00000420158.1:p.Glu424Lys
ENST00000468777.5:c.1303G>A ENSP00000419129.1:p.Glu435Lys
ENST00000469217.5:c.1270G>A ENSP00000419027.1:p.Glu424Lys
ENST00000471595.5:c.1210G>A ENSP00000417549.1:p.Glu404Lys
ENST00000473073.1:n.1411G>A
ENST00000474833.5:n.823+256G>A
ENST00000478469.5:c.885-7114G>A ENSP00000420759.1:n.885-7114G>A
ENST00000482086.5:c.862G>A ENSP00000417253.1:p.Glu288Lys
ENST00000483687.5:c.1153G>A ENSP00000420639.1:p.Glu385Lys
ENST00000484181.5:c.1198+256G>A ENSP00000417937.1:n.1198+256G>A
ENST00000490504.5:c.1039G>A ENSP00000418307.1:p.Glu347Lys
NM_000532.4:c.1210G>A NP_000523.2:p.Glu404Lys
NM_001178014.1:c.1270G>A NP_001171485.1:p.Glu424Lys
NM_000532.5:c.1210G>A MANE Select NP_000523.2:p.Glu404Lys
NM_001178014.2:c.1270G>A NP_001171485.1:p.Glu424Lys
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