Canonical Allele Identifier: CA354740020

Gene: PCCB

Linked Data

• gnomAD v4: 3-136262064-T-C
• COSMIC: COSM4790989
• MyVariant Identifiers: chr3:g.135980906T>C (hg19) ; chr3:g.136262064T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.542T>C MANE Select	ENSP00000251654.4:p.Leu181Pro
ENST00000251654.8:c.542T>C	ENSP00000251654.4:p.Leu181Pro
ENST00000459873.1:c.293T>C	ENSP00000419293.1:p.Leu98Pro
ENST00000462542.5:c.409T>C
ENST00000462637.5:c.473T>C	ENSP00000420391.1:p.Leu158Pro
ENST00000465176.5:n.504T>C
ENST00000466072.5:c.542T>C	ENSP00000420158.1:p.Leu181Pro
ENST00000468777.5:c.635T>C	ENSP00000419129.1:p.Leu212Pro
ENST00000469217.5:c.602T>C	ENSP00000419027.1:p.Leu201Pro
ENST00000471595.5:c.542T>C	ENSP00000417549.1:p.Leu181Pro
ENST00000473073.1:n.499T>C
ENST00000474833.5:n.168+11506T>C
ENST00000475214.5:n.456T>C
ENST00000478469.5:c.542T>C	ENSP00000420759.1:p.Leu181Pro
ENST00000482086.5:c.194T>C	ENSP00000417253.1:p.Leu65Pro
ENST00000483687.5:c.485T>C	ENSP00000420639.1:p.Leu162Pro
ENST00000484181.5:c.542T>C	ENSP00000417937.1:p.Leu181Pro
ENST00000490504.5:c.372+5441T>C	ENSP00000418307.1:n.372+5441T>C
NM_000532.4:c.542T>C	NP_000523.2:p.Leu181Pro
NM_001178014.1:c.602T>C	NP_001171485.1:p.Leu201Pro
XM_011512873.1:c.542T>C	XP_011511175.1:p.Leu181Pro
XM_011512873.2:c.542T>C	XP_011511175.1:p.Leu181Pro
NM_000532.5:c.542T>C MANE Select	NP_000523.2:p.Leu181Pro
NM_001178014.2:c.602T>C	NP_001171485.1:p.Leu201Pro