Canonical Allele Identifier: CA354740019

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.135980906T>G (hg19) ; chr3:g.136262064T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262064T>G , CM000665.2:g.136262064T>G	GRCh38
NC_000003.11:g.135980906T>G , CM000665.1:g.135980906T>G	GRCh37
NC_000003.10:g.137463596T>G	NCBI36
NG_008939.1:g.16740T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.542T>G MANE Select	ENSP00000251654.4:p.Leu181Arg
ENST00000251654.8:c.542T>G	ENSP00000251654.4:p.Leu181Arg
ENST00000459873.1:c.293T>G	ENSP00000419293.1:p.Leu98Arg
ENST00000462542.5:c.409T>G
ENST00000462637.5:c.473T>G	ENSP00000420391.1:p.Leu158Arg
ENST00000465176.5:n.504T>G
ENST00000466072.5:c.542T>G	ENSP00000420158.1:p.Leu181Arg
ENST00000468777.5:c.635T>G	ENSP00000419129.1:p.Leu212Arg
ENST00000469217.5:c.602T>G	ENSP00000419027.1:p.Leu201Arg
ENST00000471595.5:c.542T>G	ENSP00000417549.1:p.Leu181Arg
ENST00000473073.1:n.499T>G
ENST00000474833.5:n.168+11506T>G
ENST00000475214.5:n.456T>G
ENST00000478469.5:c.542T>G	ENSP00000420759.1:p.Leu181Arg
ENST00000482086.5:c.194T>G	ENSP00000417253.1:p.Leu65Arg
ENST00000483687.5:c.485T>G	ENSP00000420639.1:p.Leu162Arg
ENST00000484181.5:c.542T>G	ENSP00000417937.1:p.Leu181Arg
ENST00000490504.5:c.372+5441T>G	ENSP00000418307.1:n.372+5441T>G
NM_000532.4:c.542T>G	NP_000523.2:p.Leu181Arg
NM_001178014.1:c.602T>G	NP_001171485.1:p.Leu201Arg
XM_011512873.1:c.542T>G	XP_011511175.1:p.Leu181Arg
XM_011512873.2:c.542T>G	XP_011511175.1:p.Leu181Arg
NM_000532.5:c.542T>G MANE Select	NP_000523.2:p.Leu181Arg
NM_001178014.2:c.602T>G	NP_001171485.1:p.Leu201Arg