Canonical Allele Identifier: CA2631793

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136283893T>A , CM000665.2:g.136283893T>A	GRCh38
NC_000003.11:g.136002735T>A , CM000665.1:g.136002735T>A	GRCh37
NC_000003.10:g.137485425T>A	NCBI36
NG_008939.1:g.38569T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.600T>A MANE Select	NP_000523.2:p.Cys200Ter
ENST00000251654.9:c.600T>A MANE Select	ENSP00000251654.4:p.Cys200Ter
NM_000532.4:c.600T>A	NP_000523.2:p.Cys200Ter
NM_001178014.1:c.660T>A	NP_001171485.1:p.Cys220Ter
NM_001178014.2:c.660T>A	NP_001171485.1:p.Cys220Ter
ENST00000251654.8:c.600T>A	ENSP00000251654.4:p.Cys200Ter
ENST00000459873.1:c.351T>A	ENSP00000419293.1:p.Cys117Ter
ENST00000462542.5:c.467T>A
ENST00000462637.5:c.531T>A	ENSP00000420391.1:p.Cys177Ter
ENST00000465176.5:n.562T>A
ENST00000466072.5:c.600T>A	ENSP00000420158.1:p.Cys200Ter
ENST00000468777.5:c.693T>A	ENSP00000419129.1:p.Cys231Ter
ENST00000469217.5:c.660T>A	ENSP00000419027.1:p.Cys220Ter
ENST00000471595.5:c.600T>A	ENSP00000417549.1:p.Cys200Ter
ENST00000473073.1:n.557T>A
ENST00000474833.5:n.225T>A
ENST00000475214.5:n.514T>A
ENST00000478469.5:c.600T>A	ENSP00000420759.1:p.Cys200Ter
ENST00000482086.5:c.252T>A	ENSP00000417253.1:p.Cys84Ter
ENST00000483687.5:c.543T>A	ENSP00000420639.1:p.Cys181Ter
ENST00000484181.5:c.600T>A	ENSP00000417937.1:p.Cys200Ter
ENST00000490504.5:c.429T>A	ENSP00000418307.1:p.Cys143Ter
XM_011512873.1:c.600T>A	XP_011511175.1:p.Cys200Ter
XM_011512873.2:c.600T>A	XP_011511175.1:p.Cys200Ter