Canonical Allele Identifier: CA354643707

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136293849C>T , CM000665.2:g.136293849C>T	GRCh38
NC_000003.11:g.136012691C>T , CM000665.1:g.136012691C>T	GRCh37
NC_000003.10:g.137495381C>T	NCBI36
NG_008939.1:g.48525C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.748C>T MANE Select	NP_000523.2:p.His250Tyr
ENST00000251654.9:c.748C>T MANE Select	ENSP00000251654.4:p.His250Tyr
NM_000532.4:c.748C>T	NP_000523.2:p.His250Tyr
NM_001178014.1:c.808C>T	NP_001171485.1:p.His270Tyr
NM_001178014.2:c.808C>T	NP_001171485.1:p.His270Tyr
ENST00000251654.8:c.748C>T	ENSP00000251654.4:p.His250Tyr
ENST00000462637.5:c.679C>T	ENSP00000420391.1:p.His227Tyr
ENST00000466072.5:c.748C>T	ENSP00000420158.1:p.His250Tyr
ENST00000468777.5:c.841C>T	ENSP00000419129.1:p.His281Tyr
ENST00000469217.5:c.808C>T	ENSP00000419027.1:p.His270Tyr
ENST00000471595.5:c.748C>T	ENSP00000417549.1:p.His250Tyr
ENST00000473073.1:n.705C>T
ENST00000474833.5:n.373C>T
ENST00000475214.5:n.662C>T
ENST00000478469.5:c.748C>T	ENSP00000420759.1:p.His250Tyr
ENST00000482086.5:c.400C>T	ENSP00000417253.1:p.His134Tyr
ENST00000483687.5:c.691C>T	ENSP00000420639.1:p.His231Tyr
ENST00000484181.5:c.748C>T	ENSP00000417937.1:p.His250Tyr
ENST00000490504.5:c.577C>T	ENSP00000418307.1:p.His193Tyr
XM_011512873.1:c.748C>T	XP_011511175.1:p.His250Tyr
XM_011512873.2:c.748C>T	XP_011511175.1:p.His250Tyr