Canonical Allele Identifier: CA354648980

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136045999A>C (hg19) ; chr3:g.136327157A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327157A>C , CM000665.2:g.136327157A>C	GRCh38
NC_000003.11:g.136045999A>C , CM000665.1:g.136045999A>C	GRCh37
NC_000003.10:g.137528689A>C	NCBI36
NG_008939.1:g.81833A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1201A>C MANE Select	ENSP00000251654.4:p.Thr401Pro
ENST00000251654.8:c.1201A>C	ENSP00000251654.4:p.Thr401Pro
ENST00000462637.5:c.1132A>C	ENSP00000420391.1:p.Thr378Pro
ENST00000466072.5:c.1261A>C	ENSP00000420158.1:p.Thr421Pro
ENST00000468777.5:c.1294A>C	ENSP00000419129.1:p.Thr432Pro
ENST00000469217.5:c.1261A>C	ENSP00000419027.1:p.Thr421Pro
ENST00000471595.5:c.1201A>C	ENSP00000417549.1:p.Thr401Pro
ENST00000473073.1:n.1402A>C
ENST00000474833.5:n.823+247A>C
ENST00000478469.5:c.885-7123A>C	ENSP00000420759.1:n.885-7123A>C
ENST00000482086.5:c.853A>C	ENSP00000417253.1:p.Thr285Pro
ENST00000483687.5:c.1144A>C	ENSP00000420639.1:p.Thr382Pro
ENST00000484181.5:c.1198+247A>C	ENSP00000417937.1:n.1198+247A>C
ENST00000490504.5:c.1030A>C	ENSP00000418307.1:p.Thr344Pro
NM_000532.4:c.1201A>C	NP_000523.2:p.Thr401Pro
NM_001178014.1:c.1261A>C	NP_001171485.1:p.Thr421Pro
NM_000532.5:c.1201A>C MANE Select	NP_000523.2:p.Thr401Pro
NM_001178014.2:c.1261A>C	NP_001171485.1:p.Thr421Pro