Canonical Allele Identifier: CA354649974

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329925C>T , CM000665.2:g.136329925C>T	GRCh38
NC_000003.11:g.136048767C>T , CM000665.1:g.136048767C>T	GRCh37
NC_000003.10:g.137531457C>T	NCBI36
NG_008939.1:g.84601C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1519C>T MANE Select	NP_000523.2:p.Gln507Ter
ENST00000251654.9:c.1519C>T MANE Select	ENSP00000251654.4:p.Gln507Ter
NM_000532.4:c.1519C>T	NP_000523.2:p.Gln507Ter
NM_001178014.1:c.1579C>T	NP_001171485.1:p.Gln527Ter
NM_001178014.2:c.1579C>T	NP_001171485.1:p.Gln527Ter
ENST00000251654.8:c.1519C>T	ENSP00000251654.4:p.Gln507Ter
ENST00000462637.5:c.1450C>T	ENSP00000420391.1:p.Gln484Ter
ENST00000466072.5:c.1579C>T	ENSP00000420158.1:p.Gln527Ter
ENST00000468777.5:c.1612C>T	ENSP00000419129.1:p.Gln538Ter
ENST00000469217.5:c.1579C>T	ENSP00000419027.1:p.Gln527Ter
ENST00000471595.5:c.1519C>T	ENSP00000417549.1:p.Gln507Ter
ENST00000473073.1:n.1720C>T
ENST00000478469.5:c.885-4355C>T	ENSP00000420759.1:n.885-4355C>T
ENST00000482086.5:c.1171C>T	ENSP00000417253.1:p.Gln391Ter
ENST00000483687.5:c.1462C>T	ENSP00000420639.1:p.Gln488Ter
ENST00000484181.5:c.*200C>T	ENSP00000417937.1:n.*200C>T
ENST00000490504.5:c.1348C>T	ENSP00000418307.1:p.Gln450Ter