Canonical Allele Identifier: CA354644761

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136298024C>G , CM000665.2:g.136298024C>G	GRCh38
NC_000003.11:g.136016866C>G , CM000665.1:g.136016866C>G	GRCh37
NC_000003.10:g.137499556C>G	NCBI36
NG_008939.1:g.52700C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.836C>G MANE Select	NP_000523.2:p.Pro279Arg
ENST00000251654.9:c.836C>G MANE Select	ENSP00000251654.4:p.Pro279Arg
NM_000532.4:c.836C>G	NP_000523.2:p.Pro279Arg
NM_001178014.1:c.896C>G	NP_001171485.1:p.Pro299Arg
NM_001178014.2:c.896C>G	NP_001171485.1:p.Pro299Arg
ENST00000251654.8:c.836C>G	ENSP00000251654.4:p.Pro279Arg
ENST00000462637.5:c.767C>G	ENSP00000420391.1:p.Pro256Arg
ENST00000466072.5:c.836C>G	ENSP00000420158.1:p.Pro279Arg
ENST00000468777.5:c.929C>G	ENSP00000419129.1:p.Pro310Arg
ENST00000469217.5:c.896C>G	ENSP00000419027.1:p.Pro299Arg
ENST00000471595.5:c.836C>G	ENSP00000417549.1:p.Pro279Arg
ENST00000473073.1:n.793C>G
ENST00000474833.5:n.461C>G
ENST00000475214.5:n.750C>G
ENST00000478469.5:c.836C>G	ENSP00000420759.1:p.Pro279Arg
ENST00000482086.5:c.488C>G	ENSP00000417253.1:p.Pro163Arg
ENST00000483687.5:c.779C>G	ENSP00000420639.1:p.Pro260Arg
ENST00000484181.5:c.836C>G	ENSP00000417937.1:p.Pro279Arg
ENST00000490504.5:c.665C>G	ENSP00000418307.1:p.Pro222Arg
XM_011512873.1:c.836C>G	XP_011511175.1:p.Pro279Arg
XM_011512873.2:c.836C>G	XP_011511175.1:p.Pro279Arg