Canonical Allele Identifier: CA435957488

Gene: PCCB

Linked Data

• gnomAD v4: 3-136262039-T-C
• MyVariant Identifiers: chr3:g.135980881T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262039T>C , CM000665.2:g.136262039T>C	GRCh38
NC_000003.11:g.135980881T>C , CM000665.1:g.135980881T>C	GRCh37
NC_000003.10:g.137463571T>C	NCBI36
NG_008939.1:g.16715T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.517T>C MANE Select	ENSP00000251654.4:p.Leu173=
ENST00000251654.8:c.517T>C	ENSP00000251654.4:p.Leu173=
ENST00000459873.1:c.268T>C	ENSP00000419293.1:p.Leu90=
ENST00000462542.5:c.384T>C
ENST00000462637.5:c.448T>C	ENSP00000420391.1:p.Leu150=
ENST00000465176.5:n.479T>C
ENST00000466072.5:c.517T>C	ENSP00000420158.1:p.Leu173=
ENST00000468777.5:c.610T>C	ENSP00000419129.1:p.Leu204=
ENST00000469217.5:c.577T>C	ENSP00000419027.1:p.Leu193=
ENST00000471595.5:c.517T>C	ENSP00000417549.1:p.Leu173=
ENST00000473073.1:n.474T>C
ENST00000474833.5:n.168+11481T>C
ENST00000475214.5:n.431T>C
ENST00000478469.5:c.517T>C	ENSP00000420759.1:p.Leu173=
ENST00000482086.5:c.169T>C	ENSP00000417253.1:p.Leu57=
ENST00000483687.5:c.460T>C	ENSP00000420639.1:p.Leu154=
ENST00000484181.5:c.517T>C	ENSP00000417937.1:p.Leu173=
ENST00000490504.5:c.372+5416T>C	ENSP00000418307.1:n.372+5416T>C
NM_000532.4:c.517T>C	NP_000523.2:p.Leu173=
NM_001178014.1:c.577T>C	NP_001171485.1:p.Leu193=
XM_011512873.1:c.517T>C	XP_011511175.1:p.Leu173=
XM_011512873.2:c.517T>C	XP_011511175.1:p.Leu173=
NM_000532.5:c.517T>C MANE Select	NP_000523.2:p.Leu173=
NM_001178014.2:c.577T>C	NP_001171485.1:p.Leu193=