Canonical Allele Identifier: CA354650054

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136048789G>C (hg19) ; chr3:g.136329947G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329947G>C , CM000665.2:g.136329947G>C	GRCh38
NC_000003.11:g.136048789G>C , CM000665.1:g.136048789G>C	GRCh37
NC_000003.10:g.137531479G>C	NCBI36
NG_008939.1:g.84623G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1541G>C MANE Select	ENSP00000251654.4:p.Arg514Pro
ENST00000251654.8:c.1541G>C	ENSP00000251654.4:p.Arg514Pro
ENST00000462637.5:c.1472G>C	ENSP00000420391.1:p.Arg491Pro
ENST00000466072.5:c.1601G>C	ENSP00000420158.1:p.Arg534Pro
ENST00000468777.5:c.1634G>C	ENSP00000419129.1:p.Arg545Pro
ENST00000469217.5:c.1601G>C	ENSP00000419027.1:p.Arg534Pro
ENST00000471595.5:c.1541G>C	ENSP00000417549.1:p.Arg514Pro
ENST00000473073.1:n.1742G>C
ENST00000478469.5:c.885-4333G>C	ENSP00000420759.1:n.885-4333G>C
ENST00000482086.5:c.1193G>C	ENSP00000417253.1:p.Arg398Pro
ENST00000483687.5:c.1484G>C	ENSP00000420639.1:p.Arg495Pro
ENST00000484181.5:c.*222G>C	ENSP00000417937.1:n.*222G>C
ENST00000490504.5:c.1370G>C	ENSP00000418307.1:p.Arg457Pro
NM_000532.4:c.1541G>C	NP_000523.2:p.Arg514Pro
NM_001178014.1:c.1601G>C	NP_001171485.1:p.Arg534Pro
NM_000532.5:c.1541G>C MANE Select	NP_000523.2:p.Arg514Pro
NM_001178014.2:c.1601G>C	NP_001171485.1:p.Arg534Pro