Canonical Allele Identifier: CA83793889

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136293783C>G , CM000665.2:g.136293783C>G	GRCh38
NC_000003.11:g.136012625C>G , CM000665.1:g.136012625C>G	GRCh37
NC_000003.10:g.137495315C>G	NCBI36
NG_008939.1:g.48459C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.682C>G MANE Select	NP_000523.2:p.Pro228Ala
ENST00000251654.9:c.682C>G MANE Select	ENSP00000251654.4:p.Pro228Ala
NM_000532.4:c.682C>G	NP_000523.2:p.Pro228Ala
NM_001178014.1:c.742C>G	NP_001171485.1:p.Pro248Ala
NM_001178014.2:c.742C>G	NP_001171485.1:p.Pro248Ala
ENST00000251654.8:c.682C>G	ENSP00000251654.4:p.Pro228Ala
ENST00000462637.5:c.613C>G	ENSP00000420391.1:p.Pro205Ala
ENST00000466072.5:c.682C>G	ENSP00000420158.1:p.Pro228Ala
ENST00000468777.5:c.775C>G	ENSP00000419129.1:p.Pro259Ala
ENST00000469217.5:c.742C>G	ENSP00000419027.1:p.Pro248Ala
ENST00000471595.5:c.682C>G	ENSP00000417549.1:p.Pro228Ala
ENST00000473073.1:n.639C>G
ENST00000474833.5:n.307C>G
ENST00000475214.5:n.596C>G
ENST00000478469.5:c.682C>G	ENSP00000420759.1:p.Pro228Ala
ENST00000482086.5:c.334C>G	ENSP00000417253.1:p.Pro112Ala
ENST00000483687.5:c.625C>G	ENSP00000420639.1:p.Pro209Ala
ENST00000484181.5:c.682C>G	ENSP00000417937.1:p.Pro228Ala
ENST00000490504.5:c.511C>G	ENSP00000418307.1:p.Pro171Ala
XM_011512873.1:c.682C>G	XP_011511175.1:p.Pro228Ala
XM_011512873.2:c.682C>G	XP_011511175.1:p.Pro228Ala