Canonical Allele Identifier: CA354644947

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136016903C>A (hg19) ; chr3:g.136298061C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136298061C>A , CM000665.2:g.136298061C>A	GRCh38
NC_000003.11:g.136016903C>A , CM000665.1:g.136016903C>A	GRCh37
NC_000003.10:g.137499593C>A	NCBI36
NG_008939.1:g.52737C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.873C>A MANE Select	ENSP00000251654.4:p.Cys291Ter
ENST00000251654.8:c.873C>A	ENSP00000251654.4:p.Cys291Ter
ENST00000462637.5:c.804C>A	ENSP00000420391.1:p.Cys268Ter
ENST00000466072.5:c.873C>A	ENSP00000420158.1:p.Cys291Ter
ENST00000468777.5:c.966C>A	ENSP00000419129.1:p.Cys322Ter
ENST00000469217.5:c.933C>A	ENSP00000419027.1:p.Cys311Ter
ENST00000471595.5:c.873C>A	ENSP00000417549.1:p.Cys291Ter
ENST00000473073.1:n.830C>A
ENST00000474833.5:n.498C>A
ENST00000475214.5:n.787C>A
ENST00000478469.5:c.873C>A	ENSP00000420759.1:p.Cys291Ter
ENST00000482086.5:c.525C>A	ENSP00000417253.1:p.Cys175Ter
ENST00000483687.5:c.816C>A	ENSP00000420639.1:p.Cys272Ter
ENST00000484181.5:c.873C>A	ENSP00000417937.1:p.Cys291Ter
ENST00000490504.5:c.702C>A	ENSP00000418307.1:p.Cys234Ter
NM_000532.4:c.873C>A	NP_000523.2:p.Cys291Ter
NM_001178014.1:c.933C>A	NP_001171485.1:p.Cys311Ter
XM_011512873.1:c.873C>A	XP_011511175.1:p.Cys291Ter
XM_011512873.2:c.873C>A	XP_011511175.1:p.Cys291Ter
NM_000532.5:c.873C>A MANE Select	NP_000523.2:p.Cys291Ter
NM_001178014.2:c.933C>A	NP_001171485.1:p.Cys311Ter