Canonical Allele Identifier: CA2631934

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136301056C>T , CM000665.2:g.136301056C>T	GRCh38
NC_000003.11:g.136019898C>T , CM000665.1:g.136019898C>T	GRCh37
NC_000003.10:g.137502588C>T	NCBI36
NG_008939.1:g.55732C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.911C>T MANE Select	NP_000523.2:p.Thr304Ile
ENST00000251654.9:c.911C>T MANE Select	ENSP00000251654.4:p.Thr304Ile
NM_000532.4:c.911C>T	NP_000523.2:p.Thr304Ile
NM_001178014.1:c.971C>T	NP_001171485.1:p.Thr324Ile
NM_001178014.2:c.971C>T	NP_001171485.1:p.Thr324Ile
ENST00000251654.8:c.911C>T	ENSP00000251654.4:p.Thr304Ile
ENST00000462637.5:c.842C>T	ENSP00000420391.1:p.Thr281Ile
ENST00000466072.5:c.911C>T	ENSP00000420158.1:p.Thr304Ile
ENST00000468777.5:c.1004C>T	ENSP00000419129.1:p.Thr335Ile
ENST00000469217.5:c.971C>T	ENSP00000419027.1:p.Thr324Ile
ENST00000471595.5:c.911C>T	ENSP00000417549.1:p.Thr304Ile
ENST00000473073.1:n.868C>T
ENST00000474833.5:n.536C>T
ENST00000475214.5:n.825C>T
ENST00000478469.5:c.884+2984C>T	ENSP00000420759.1:n.884+2984C>T
ENST00000482086.5:c.563C>T	ENSP00000417253.1:p.Thr188Ile
ENST00000483687.5:c.854C>T	ENSP00000420639.1:p.Thr285Ile
ENST00000484181.5:c.911C>T	ENSP00000417937.1:p.Thr304Ile
ENST00000490504.5:c.740C>T	ENSP00000418307.1:p.Thr247Ile
XM_011512873.1:c.911C>T	XP_011511175.1:p.Thr304Ile
XM_011512873.2:c.911C>T	XP_011511175.1:p.Thr304Ile