Canonical Allele Identifier: CA354650082

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136048795G>T (hg19) ; chr3:g.136329953G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329953G>T , CM000665.2:g.136329953G>T	GRCh38
NC_000003.11:g.136048795G>T , CM000665.1:g.136048795G>T	GRCh37
NC_000003.10:g.137531485G>T	NCBI36
NG_008939.1:g.84629G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1547G>T MANE Select	ENSP00000251654.4:p.Cys516Phe
ENST00000251654.8:c.1547G>T	ENSP00000251654.4:p.Cys516Phe
ENST00000462637.5:c.1478G>T	ENSP00000420391.1:p.Cys493Phe
ENST00000466072.5:c.1607G>T	ENSP00000420158.1:p.Cys536Phe
ENST00000468777.5:c.1640G>T	ENSP00000419129.1:p.Cys547Phe
ENST00000469217.5:c.1607G>T	ENSP00000419027.1:p.Cys536Phe
ENST00000471595.5:c.1547G>T	ENSP00000417549.1:p.Cys516Phe
ENST00000473073.1:n.1748G>T
ENST00000478469.5:c.885-4327G>T	ENSP00000420759.1:n.885-4327G>T
ENST00000482086.5:c.1199G>T	ENSP00000417253.1:p.Cys400Phe
ENST00000483687.5:c.1490G>T	ENSP00000420639.1:p.Cys497Phe
ENST00000484181.5:c.*228G>T	ENSP00000417937.1:n.*228G>T
ENST00000490504.5:c.1376G>T	ENSP00000418307.1:p.Cys459Phe
NM_000532.4:c.1547G>T	NP_000523.2:p.Cys516Phe
NM_001178014.1:c.1607G>T	NP_001171485.1:p.Cys536Phe
NM_000532.5:c.1547G>T MANE Select	NP_000523.2:p.Cys516Phe
NM_001178014.2:c.1607G>T	NP_001171485.1:p.Cys536Phe