Canonical Allele Identifier: CA84266988

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261971C>T , CM000665.2:g.136261971C>T	GRCh38
NC_000003.11:g.135980813C>T , CM000665.1:g.135980813C>T	GRCh37
NC_000003.10:g.137463503C>T	NCBI36
NG_008939.1:g.16647C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.449C>T MANE Select	NP_000523.2:p.Thr150Met
ENST00000251654.9:c.449C>T MANE Select	ENSP00000251654.4:p.Thr150Met
NM_000532.4:c.449C>T	NP_000523.2:p.Thr150Met
NM_001178014.1:c.509C>T	NP_001171485.1:p.Thr170Met
NM_001178014.2:c.509C>T	NP_001171485.1:p.Thr170Met
ENST00000251654.8:c.449C>T	ENSP00000251654.4:p.Thr150Met
ENST00000459873.1:c.200C>T	ENSP00000419293.1:p.Thr67Met
ENST00000462542.5:c.316C>T
ENST00000462637.5:c.380C>T	ENSP00000420391.1:p.Thr127Met
ENST00000465176.5:n.411C>T
ENST00000465423.5:c.536C>T	ENSP00000419263.1:p.Thr179Met
ENST00000466072.5:c.449C>T	ENSP00000420158.1:p.Thr150Met
ENST00000468777.5:c.542C>T	ENSP00000419129.1:p.Thr181Met
ENST00000469217.5:c.509C>T	ENSP00000419027.1:p.Thr170Met
ENST00000471595.5:c.449C>T	ENSP00000417549.1:p.Thr150Met
ENST00000473073.1:n.406C>T
ENST00000474833.5:n.168+11413C>T
ENST00000475214.5:n.363C>T
ENST00000478469.5:c.449C>T	ENSP00000420759.1:p.Thr150Met
ENST00000482086.5:c.101C>T	ENSP00000417253.1:p.Thr34Met
ENST00000483687.5:c.392C>T	ENSP00000420639.1:p.Thr131Met
ENST00000484181.5:c.449C>T	ENSP00000417937.1:p.Thr150Met
ENST00000490504.5:c.372+5348C>T	ENSP00000418307.1:n.372+5348C>T
ENST00000494742.5:c.200C>T	ENSP00000418020.1:p.Thr67Met
XM_011512873.1:c.449C>T	XP_011511175.1:p.Thr150Met
XM_011512873.2:c.449C>T	XP_011511175.1:p.Thr150Met