Canonical Allele Identifier: CA435841857

Gene: PCCB

Linked Data

• dbSNP Id: rs1458615823
• gnomAD v2: 3-136048796-C-T
• gnomAD v4: 3-136329954-C-T
• MyVariant Identifiers: chr3:g.136048796C>T (hg19) ; chr3:g.136329954C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329954C>T , CM000665.2:g.136329954C>T	GRCh38
NC_000003.11:g.136048796C>T , CM000665.1:g.136048796C>T	GRCh37
NC_000003.10:g.137531486C>T	NCBI36
NG_008939.1:g.84630C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1548C>T MANE Select	ENSP00000251654.4:p.Cys516=
ENST00000251654.8:c.1548C>T	ENSP00000251654.4:p.Cys516=
ENST00000462637.5:c.1479C>T	ENSP00000420391.1:p.Cys493=
ENST00000466072.5:c.1608C>T	ENSP00000420158.1:p.Cys536=
ENST00000468777.5:c.1641C>T	ENSP00000419129.1:p.Cys547=
ENST00000469217.5:c.1608C>T	ENSP00000419027.1:p.Cys536=
ENST00000471595.5:c.1548C>T	ENSP00000417549.1:p.Cys516=
ENST00000473073.1:n.1749C>T
ENST00000478469.5:c.885-4326C>T	ENSP00000420759.1:n.885-4326C>T
ENST00000482086.5:c.1200C>T	ENSP00000417253.1:p.Cys400=
ENST00000483687.5:c.1491C>T	ENSP00000420639.1:p.Cys497=
ENST00000484181.5:c.*229C>T	ENSP00000417937.1:n.*229C>T
ENST00000490504.5:c.1377C>T	ENSP00000418307.1:p.Cys459=
NM_000532.4:c.1548C>T	NP_000523.2:p.Cys516=
NM_001178014.1:c.1608C>T	NP_001171485.1:p.Cys536=
NM_000532.5:c.1548C>T MANE Select	NP_000523.2:p.Cys516=
NM_001178014.2:c.1608C>T	NP_001171485.1:p.Cys536=