Canonical Allele Identifier: CA354650233

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329988C>T , CM000665.2:g.136329988C>T	GRCh38
NC_000003.11:g.136048830C>T , CM000665.1:g.136048830C>T	GRCh37
NC_000003.10:g.137531520C>T	NCBI36
NG_008939.1:g.84664C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1582C>T MANE Select	NP_000523.2:p.Gln528Ter
ENST00000251654.9:c.1582C>T MANE Select	ENSP00000251654.4:p.Gln528Ter
NM_000532.4:c.1582C>T	NP_000523.2:p.Gln528Ter
NM_001178014.1:c.1642C>T	NP_001171485.1:p.Gln548Ter
NM_001178014.2:c.1642C>T	NP_001171485.1:p.Gln548Ter
ENST00000251654.8:c.1582C>T	ENSP00000251654.4:p.Gln528Ter
ENST00000462637.5:c.1513C>T	ENSP00000420391.1:p.Gln505Ter
ENST00000466072.5:c.1642C>T	ENSP00000420158.1:p.Gln548Ter
ENST00000468777.5:c.1675C>T	ENSP00000419129.1:p.Gln559Ter
ENST00000469217.5:c.1642C>T	ENSP00000419027.1:p.Gln548Ter
ENST00000471595.5:c.1578+4C>T	ENSP00000417549.1:n.1578+4C>T
ENST00000473073.1:n.1783C>T
ENST00000478469.5:c.885-4292C>T	ENSP00000420759.1:n.885-4292C>T
ENST00000482086.5:c.1234C>T	ENSP00000417253.1:p.Gln412Ter
ENST00000483687.5:c.1525C>T	ENSP00000420639.1:p.Gln509Ter
ENST00000484181.5:c.*263C>T	ENSP00000417937.1:n.*263C>T
ENST00000490504.5:c.1411C>T	ENSP00000418307.1:p.Gln471Ter