Canonical Allele Identifier: CA354739373

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136260521C>T , CM000665.2:g.136260521C>T	GRCh38
NC_000003.11:g.135979363C>T , CM000665.1:g.135979363C>T	GRCh37
NC_000003.10:g.137462053C>T	NCBI36
NG_008939.1:g.15197C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.415C>T MANE Select	NP_000523.2:p.Gln139Ter
ENST00000251654.9:c.415C>T MANE Select	ENSP00000251654.4:p.Gln139Ter
NM_000532.4:c.415C>T	NP_000523.2:p.Gln139Ter
NM_001178014.1:c.475C>T	NP_001171485.1:p.Gln159Ter
NM_001178014.2:c.475C>T	NP_001171485.1:p.Gln159Ter
ENST00000251654.8:c.415C>T	ENSP00000251654.4:p.Gln139Ter
ENST00000459873.1:c.166C>T	ENSP00000419293.1:p.Gln56Ter
ENST00000462542.5:c.282C>T
ENST00000462637.5:c.346C>T	ENSP00000420391.1:p.Gln116Ter
ENST00000465176.5:n.377C>T
ENST00000465423.5:c.502C>T	ENSP00000419263.1:p.Gln168Ter
ENST00000466072.5:c.415C>T	ENSP00000420158.1:p.Gln139Ter
ENST00000468777.5:c.508C>T	ENSP00000419129.1:p.Gln170Ter
ENST00000469217.5:c.475C>T	ENSP00000419027.1:p.Gln159Ter
ENST00000471595.5:c.415C>T	ENSP00000417549.1:p.Gln139Ter
ENST00000473073.1:n.372C>T
ENST00000474833.5:n.168+9963C>T
ENST00000475214.5:n.329C>T
ENST00000478469.5:c.415C>T	ENSP00000420759.1:p.Gln139Ter
ENST00000482086.5:c.94-1443C>T	ENSP00000417253.1:n.94-1443C>T
ENST00000483687.5:c.373-1431C>T	ENSP00000420639.1:n.373-1431C>T
ENST00000484181.5:c.415C>T	ENSP00000417937.1:p.Gln139Ter
ENST00000490504.5:c.372+3898C>T	ENSP00000418307.1:n.372+3898C>T
ENST00000494742.5:c.166C>T	ENSP00000418020.1:p.Gln56Ter
XM_011512873.1:c.415C>T	XP_011511175.1:p.Gln139Ter
XM_011512873.2:c.415C>T	XP_011511175.1:p.Gln139Ter