Canonical Allele Identifier: CA435841855

Gene: PCCB

Linked Data

• gnomAD v4: 3-136329951-C-A
• MyVariant Identifiers: chr3:g.136048793C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329951C>A , CM000665.2:g.136329951C>A	GRCh38
NC_000003.11:g.136048793C>A , CM000665.1:g.136048793C>A	GRCh37
NC_000003.10:g.137531483C>A	NCBI36
NG_008939.1:g.84627C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1545C>A MANE Select	ENSP00000251654.4:p.Ile515=
ENST00000251654.8:c.1545C>A	ENSP00000251654.4:p.Ile515=
ENST00000462637.5:c.1476C>A	ENSP00000420391.1:p.Ile492=
ENST00000466072.5:c.1605C>A	ENSP00000420158.1:p.Ile535=
ENST00000468777.5:c.1638C>A	ENSP00000419129.1:p.Ile546=
ENST00000469217.5:c.1605C>A	ENSP00000419027.1:p.Ile535=
ENST00000471595.5:c.1545C>A	ENSP00000417549.1:p.Ile515=
ENST00000473073.1:n.1746C>A
ENST00000478469.5:c.885-4329C>A	ENSP00000420759.1:n.885-4329C>A
ENST00000482086.5:c.1197C>A	ENSP00000417253.1:p.Ile399=
ENST00000483687.5:c.1488C>A	ENSP00000420639.1:p.Ile496=
ENST00000484181.5:c.*226C>A	ENSP00000417937.1:n.*226C>A
ENST00000490504.5:c.1374C>A	ENSP00000418307.1:p.Ile458=
NM_000532.4:c.1545C>A	NP_000523.2:p.Ile515=
NM_001178014.1:c.1605C>A	NP_001171485.1:p.Ile535=
NM_000532.5:c.1545C>A MANE Select	NP_000523.2:p.Ile515=
NM_001178014.2:c.1605C>A	NP_001171485.1:p.Ile535=