Canonical Allele Identifier: CA2632034

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136326908C>G , CM000665.2:g.136326908C>G	GRCh38
NC_000003.11:g.136045750C>G , CM000665.1:g.136045750C>G	GRCh37
NC_000003.10:g.137528440C>G	NCBI36
NG_008939.1:g.81584C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1196C>G MANE Select	NP_000523.2:p.Pro399Arg
ENST00000251654.9:c.1196C>G MANE Select	ENSP00000251654.4:p.Pro399Arg
NM_000532.4:c.1196C>G	NP_000523.2:p.Pro399Arg
NM_001178014.1:c.1256C>G	NP_001171485.1:p.Pro419Arg
NM_001178014.2:c.1256C>G	NP_001171485.1:p.Pro419Arg
ENST00000251654.8:c.1196C>G	ENSP00000251654.4:p.Pro399Arg
ENST00000462637.5:c.1127C>G	ENSP00000420391.1:p.Pro376Arg
ENST00000466072.5:c.1256C>G	ENSP00000420158.1:p.Pro419Arg
ENST00000468777.5:c.1289C>G	ENSP00000419129.1:p.Pro430Arg
ENST00000469217.5:c.1256C>G	ENSP00000419027.1:p.Pro419Arg
ENST00000471595.5:c.1196C>G	ENSP00000417549.1:p.Pro399Arg
ENST00000473073.1:n.1153C>G
ENST00000474833.5:n.821C>G
ENST00000475214.5:n.1110C>G
ENST00000478469.5:c.885-7372C>G	ENSP00000420759.1:n.885-7372C>G
ENST00000482086.5:c.848C>G	ENSP00000417253.1:p.Pro283Arg
ENST00000483687.5:c.1139C>G	ENSP00000420639.1:p.Pro380Arg
ENST00000484181.5:c.1196C>G	ENSP00000417937.1:p.Pro399Arg
ENST00000490504.5:c.1025C>G	ENSP00000418307.1:p.Pro342Arg