Canonical Allele Identifier: CA354641938

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136283925C>G , CM000665.2:g.136283925C>G	GRCh38
NC_000003.11:g.136002767C>G , CM000665.1:g.136002767C>G	GRCh37
NC_000003.10:g.137485457C>G	NCBI36
NG_008939.1:g.38601C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.632C>G MANE Select	NP_000523.2:p.Thr211Arg
ENST00000251654.9:c.632C>G MANE Select	ENSP00000251654.4:p.Thr211Arg
NM_000532.4:c.632C>G	NP_000523.2:p.Thr211Arg
NM_001178014.1:c.692C>G	NP_001171485.1:p.Thr231Arg
NM_001178014.2:c.692C>G	NP_001171485.1:p.Thr231Arg
ENST00000251654.8:c.632C>G	ENSP00000251654.4:p.Thr211Arg
ENST00000459873.1:c.383C>G	ENSP00000419293.1:p.Thr128Arg
ENST00000462637.5:c.563C>G	ENSP00000420391.1:p.Thr188Arg
ENST00000466072.5:c.632C>G	ENSP00000420158.1:p.Thr211Arg
ENST00000468777.5:c.725C>G	ENSP00000419129.1:p.Thr242Arg
ENST00000469217.5:c.692C>G	ENSP00000419027.1:p.Thr231Arg
ENST00000471595.5:c.632C>G	ENSP00000417549.1:p.Thr211Arg
ENST00000473073.1:n.589C>G
ENST00000474833.5:n.257C>G
ENST00000475214.5:n.546C>G
ENST00000478469.5:c.632C>G	ENSP00000420759.1:p.Thr211Arg
ENST00000482086.5:c.284C>G	ENSP00000417253.1:p.Thr95Arg
ENST00000483687.5:c.575C>G	ENSP00000420639.1:p.Thr192Arg
ENST00000484181.5:c.632C>G	ENSP00000417937.1:p.Thr211Arg
ENST00000490504.5:c.461C>G	ENSP00000418307.1:p.Thr154Arg
XM_011512873.1:c.632C>G	XP_011511175.1:p.Thr211Arg
XM_011512873.2:c.632C>G	XP_011511175.1:p.Thr211Arg