Canonical Allele Identifier: CA2631879

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136298002C>T , CM000665.2:g.136298002C>T	GRCh38
NC_000003.11:g.136016844C>T , CM000665.1:g.136016844C>T	GRCh37
NC_000003.10:g.137499534C>T	NCBI36
NG_008939.1:g.52678C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.814C>T MANE Select	NP_000523.2:p.Arg272Trp
ENST00000251654.9:c.814C>T MANE Select	ENSP00000251654.4:p.Arg272Trp
NM_000532.4:c.814C>T	NP_000523.2:p.Arg272Trp
NM_001178014.1:c.874C>T	NP_001171485.1:p.Arg292Trp
NM_001178014.2:c.874C>T	NP_001171485.1:p.Arg292Trp
ENST00000251654.8:c.814C>T	ENSP00000251654.4:p.Arg272Trp
ENST00000462637.5:c.745C>T	ENSP00000420391.1:p.Arg249Trp
ENST00000466072.5:c.814C>T	ENSP00000420158.1:p.Arg272Trp
ENST00000468777.5:c.907C>T	ENSP00000419129.1:p.Arg303Trp
ENST00000469217.5:c.874C>T	ENSP00000419027.1:p.Arg292Trp
ENST00000471595.5:c.814C>T	ENSP00000417549.1:p.Arg272Trp
ENST00000473073.1:n.771C>T
ENST00000474833.5:n.439C>T
ENST00000475214.5:n.728C>T
ENST00000478469.5:c.814C>T	ENSP00000420759.1:p.Arg272Trp
ENST00000482086.5:c.466C>T	ENSP00000417253.1:p.Arg156Trp
ENST00000483687.5:c.757C>T	ENSP00000420639.1:p.Arg253Trp
ENST00000484181.5:c.814C>T	ENSP00000417937.1:p.Arg272Trp
ENST00000490504.5:c.643C>T	ENSP00000418307.1:p.Arg215Trp
XM_011512873.1:c.814C>T	XP_011511175.1:p.Arg272Trp
XM_011512873.2:c.814C>T	XP_011511175.1:p.Arg272Trp