Canonical Allele Identifier: CA354739912

Gene: PCCB

Linked Data

• gnomAD v4: 3-136262033-G-A
• MyVariant Identifiers: chr3:g.135980875G>A (hg19) ; chr3:g.136262033G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262033G>A , CM000665.2:g.136262033G>A	GRCh38
NC_000003.11:g.135980875G>A , CM000665.1:g.135980875G>A	GRCh37
NC_000003.10:g.137463565G>A	NCBI36
NG_008939.1:g.16709G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.511G>A MANE Select	ENSP00000251654.4:p.Glu171Lys
ENST00000251654.8:c.511G>A	ENSP00000251654.4:p.Glu171Lys
ENST00000459873.1:c.262G>A	ENSP00000419293.1:p.Glu88Lys
ENST00000462542.5:c.378G>A
ENST00000462637.5:c.442G>A	ENSP00000420391.1:p.Glu148Lys
ENST00000465176.5:n.473G>A
ENST00000466072.5:c.511G>A	ENSP00000420158.1:p.Glu171Lys
ENST00000468777.5:c.604G>A	ENSP00000419129.1:p.Glu202Lys
ENST00000469217.5:c.571G>A	ENSP00000419027.1:p.Glu191Lys
ENST00000471595.5:c.511G>A	ENSP00000417549.1:p.Glu171Lys
ENST00000473073.1:n.468G>A
ENST00000474833.5:n.168+11475G>A
ENST00000475214.5:n.425G>A
ENST00000478469.5:c.511G>A	ENSP00000420759.1:p.Glu171Lys
ENST00000482086.5:c.163G>A	ENSP00000417253.1:p.Glu55Lys
ENST00000483687.5:c.454G>A	ENSP00000420639.1:p.Glu152Lys
ENST00000484181.5:c.511G>A	ENSP00000417937.1:p.Glu171Lys
ENST00000490504.5:c.372+5410G>A	ENSP00000418307.1:n.372+5410G>A
NM_000532.4:c.511G>A	NP_000523.2:p.Glu171Lys
NM_001178014.1:c.571G>A	NP_001171485.1:p.Glu191Lys
XM_011512873.1:c.511G>A	XP_011511175.1:p.Glu171Lys
XM_011512873.2:c.511G>A	XP_011511175.1:p.Glu171Lys
NM_000532.5:c.511G>A MANE Select	NP_000523.2:p.Glu171Lys
NM_001178014.2:c.571G>A	NP_001171485.1:p.Glu191Lys