Canonical Allele Identifier: CA354644922

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136016898G>A (hg19) ; chr3:g.136298056G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136298056G>A , CM000665.2:g.136298056G>A	GRCh38
NC_000003.11:g.136016898G>A , CM000665.1:g.136016898G>A	GRCh37
NC_000003.10:g.137499588G>A	NCBI36
NG_008939.1:g.52732G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.868G>A MANE Select	ENSP00000251654.4:p.Glu290Lys
ENST00000251654.8:c.868G>A	ENSP00000251654.4:p.Glu290Lys
ENST00000462637.5:c.799G>A	ENSP00000420391.1:p.Glu267Lys
ENST00000466072.5:c.868G>A	ENSP00000420158.1:p.Glu290Lys
ENST00000468777.5:c.961G>A	ENSP00000419129.1:p.Glu321Lys
ENST00000469217.5:c.928G>A	ENSP00000419027.1:p.Glu310Lys
ENST00000471595.5:c.868G>A	ENSP00000417549.1:p.Glu290Lys
ENST00000473073.1:n.825G>A
ENST00000474833.5:n.493G>A
ENST00000475214.5:n.782G>A
ENST00000478469.5:c.868G>A	ENSP00000420759.1:p.Glu290Lys
ENST00000482086.5:c.520G>A	ENSP00000417253.1:p.Glu174Lys
ENST00000483687.5:c.811G>A	ENSP00000420639.1:p.Glu271Lys
ENST00000484181.5:c.868G>A	ENSP00000417937.1:p.Glu290Lys
ENST00000490504.5:c.697G>A	ENSP00000418307.1:p.Glu233Lys
NM_000532.4:c.868G>A	NP_000523.2:p.Glu290Lys
NM_001178014.1:c.928G>A	NP_001171485.1:p.Glu310Lys
XM_011512873.1:c.868G>A	XP_011511175.1:p.Glu290Lys
XM_011512873.2:c.868G>A	XP_011511175.1:p.Glu290Lys
NM_000532.5:c.868G>A MANE Select	NP_000523.2:p.Glu290Lys
NM_001178014.2:c.928G>A	NP_001171485.1:p.Glu310Lys