Canonical Allele Identifier: CA2631688

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136256582C>T , CM000665.2:g.136256582C>T	GRCh38
NC_000003.11:g.135975424C>T , CM000665.1:g.135975424C>T	GRCh37
NC_000003.10:g.137458114C>T	NCBI36
NG_008939.1:g.11258C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.331C>T MANE Select	NP_000523.2:p.Arg111Ter
ENST00000251654.9:c.331C>T MANE Select	ENSP00000251654.4:p.Arg111Ter
NM_000532.4:c.331C>T	NP_000523.2:p.Arg111Ter
NM_001178014.1:c.331C>T	NP_001171485.1:p.Arg111Ter
NM_001178014.2:c.331C>T	NP_001171485.1:p.Arg111Ter
ENST00000251654.8:c.331C>T	ENSP00000251654.4:p.Arg111Ter
ENST00000459873.1:c.82C>T	ENSP00000419293.1:p.Arg28Ter
ENST00000462542.5:c.198C>T
ENST00000462637.5:c.303+607C>T	ENSP00000420391.1:n.303+607C>T
ENST00000465176.5:n.293C>T
ENST00000465423.5:c.418C>T	ENSP00000419263.1:p.Arg140Ter
ENST00000466072.5:c.331C>T	ENSP00000420158.1:p.Arg111Ter
ENST00000468777.5:c.331C>T	ENSP00000419129.1:p.Arg111Ter
ENST00000469217.5:c.331C>T	ENSP00000419027.1:p.Arg111Ter
ENST00000471595.5:c.331C>T	ENSP00000417549.1:p.Arg111Ter
ENST00000474833.5:n.168+6024C>T
ENST00000475214.5:n.245C>T
ENST00000478469.5:c.331C>T	ENSP00000420759.1:p.Arg111Ter
ENST00000482086.5:c.94-5382C>T	ENSP00000417253.1:n.94-5382C>T
ENST00000483687.5:c.331C>T	ENSP00000420639.1:p.Arg111Ter
ENST00000484181.5:c.331C>T	ENSP00000417937.1:p.Arg111Ter
ENST00000490504.5:c.331C>T	ENSP00000418307.1:p.Arg111Ter
ENST00000494742.5:c.82C>T	ENSP00000418020.1:p.Arg28Ter
XM_011512873.1:c.331C>T	XP_011511175.1:p.Arg111Ter
XM_011512873.2:c.331C>T	XP_011511175.1:p.Arg111Ter