Canonical Allele Identifier: CA312833

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136283904C>T , CM000665.2:g.136283904C>T	GRCh38
NC_000003.11:g.136002746C>T , CM000665.1:g.136002746C>T	GRCh37
NC_000003.10:g.137485436C>T	NCBI36
NG_008939.1:g.38580C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.611C>T MANE Select	NP_000523.2:p.Ala204Val
ENST00000251654.9:c.611C>T MANE Select	ENSP00000251654.4:p.Ala204Val
NM_000532.4:c.611C>T	NP_000523.2:p.Ala204Val
NM_001178014.1:c.671C>T	NP_001171485.1:p.Ala224Val
NM_001178014.2:c.671C>T	NP_001171485.1:p.Ala224Val
ENST00000251654.8:c.611C>T	ENSP00000251654.4:p.Ala204Val
ENST00000459873.1:c.362C>T	ENSP00000419293.1:p.Ala121Val
ENST00000462542.5:c.478C>T
ENST00000462637.5:c.542C>T	ENSP00000420391.1:p.Ala181Val
ENST00000466072.5:c.611C>T	ENSP00000420158.1:p.Ala204Val
ENST00000468777.5:c.704C>T	ENSP00000419129.1:p.Ala235Val
ENST00000469217.5:c.671C>T	ENSP00000419027.1:p.Ala224Val
ENST00000471595.5:c.611C>T	ENSP00000417549.1:p.Ala204Val
ENST00000473073.1:n.568C>T
ENST00000474833.5:n.236C>T
ENST00000475214.5:n.525C>T
ENST00000478469.5:c.611C>T	ENSP00000420759.1:p.Ala204Val
ENST00000482086.5:c.263C>T	ENSP00000417253.1:p.Ala88Val
ENST00000483687.5:c.554C>T	ENSP00000420639.1:p.Ala185Val
ENST00000484181.5:c.611C>T	ENSP00000417937.1:p.Ala204Val
ENST00000490504.5:c.440C>T	ENSP00000418307.1:p.Ala147Val
XM_011512873.1:c.611C>T	XP_011511175.1:p.Ala204Val
XM_011512873.2:c.611C>T	XP_011511175.1:p.Ala204Val