Canonical Allele Identifier: CA435957442

Gene: PCCB

Linked Data

• gnomAD v4: 3-136261987-G-T
• MyVariant Identifiers: chr3:g.135980829G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261987G>T , CM000665.2:g.136261987G>T	GRCh38
NC_000003.11:g.135980829G>T , CM000665.1:g.135980829G>T	GRCh37
NC_000003.10:g.137463519G>T	NCBI36
NG_008939.1:g.16663G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.465G>T MANE Select	ENSP00000251654.4:p.Val155=
ENST00000251654.8:c.465G>T	ENSP00000251654.4:p.Val155=
ENST00000459873.1:c.216G>T	ENSP00000419293.1:p.Val72=
ENST00000462542.5:c.332G>T
ENST00000462637.5:c.396G>T	ENSP00000420391.1:p.Val132=
ENST00000465176.5:n.427G>T
ENST00000465423.5:c.552G>T	ENSP00000419263.1:p.Val184=
ENST00000466072.5:c.465G>T	ENSP00000420158.1:p.Val155=
ENST00000468777.5:c.558G>T	ENSP00000419129.1:p.Val186=
ENST00000469217.5:c.525G>T	ENSP00000419027.1:p.Val175=
ENST00000471595.5:c.465G>T	ENSP00000417549.1:p.Val155=
ENST00000473073.1:n.422G>T
ENST00000474833.5:n.168+11429G>T
ENST00000475214.5:n.379G>T
ENST00000478469.5:c.465G>T	ENSP00000420759.1:p.Val155=
ENST00000482086.5:c.117G>T	ENSP00000417253.1:p.Val39=
ENST00000483687.5:c.408G>T	ENSP00000420639.1:p.Val136=
ENST00000484181.5:c.465G>T	ENSP00000417937.1:p.Val155=
ENST00000490504.5:c.372+5364G>T	ENSP00000418307.1:n.372+5364G>T
ENST00000494742.5:c.216G>T	ENSP00000418020.1:p.Val72=
NM_000532.4:c.465G>T	NP_000523.2:p.Val155=
NM_001178014.1:c.525G>T	NP_001171485.1:p.Val175=
XM_011512873.1:c.465G>T	XP_011511175.1:p.Val155=
XM_011512873.2:c.465G>T	XP_011511175.1:p.Val155=
NM_000532.5:c.465G>T MANE Select	NP_000523.2:p.Val155=
NM_001178014.2:c.525G>T	NP_001171485.1:p.Val175=