Canonical Allele Identifier: CA354739591

Gene: PCCB

Linked Data

• gnomAD v4: 3-136261980-C-T
• MyVariant Identifiers: chr3:g.135980822C>T (hg19) ; chr3:g.136261980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261980C>T , CM000665.2:g.136261980C>T	GRCh38
NC_000003.11:g.135980822C>T , CM000665.1:g.135980822C>T	GRCh37
NC_000003.10:g.137463512C>T	NCBI36
NG_008939.1:g.16656C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.458C>T MANE Select	ENSP00000251654.4:p.Ala153Val
ENST00000251654.8:c.458C>T	ENSP00000251654.4:p.Ala153Val
ENST00000459873.1:c.209C>T	ENSP00000419293.1:p.Ala70Val
ENST00000462542.5:c.325C>T
ENST00000462637.5:c.389C>T	ENSP00000420391.1:p.Ala130Val
ENST00000465176.5:n.420C>T
ENST00000465423.5:c.545C>T	ENSP00000419263.1:p.Ala182Val
ENST00000466072.5:c.458C>T	ENSP00000420158.1:p.Ala153Val
ENST00000468777.5:c.551C>T	ENSP00000419129.1:p.Ala184Val
ENST00000469217.5:c.518C>T	ENSP00000419027.1:p.Ala173Val
ENST00000471595.5:c.458C>T	ENSP00000417549.1:p.Ala153Val
ENST00000473073.1:n.415C>T
ENST00000474833.5:n.168+11422C>T
ENST00000475214.5:n.372C>T
ENST00000478469.5:c.458C>T	ENSP00000420759.1:p.Ala153Val
ENST00000482086.5:c.110C>T	ENSP00000417253.1:p.Ala37Val
ENST00000483687.5:c.401C>T	ENSP00000420639.1:p.Ala134Val
ENST00000484181.5:c.458C>T	ENSP00000417937.1:p.Ala153Val
ENST00000490504.5:c.372+5357C>T	ENSP00000418307.1:n.372+5357C>T
ENST00000494742.5:c.209C>T	ENSP00000418020.1:p.Ala70Val
NM_000532.4:c.458C>T	NP_000523.2:p.Ala153Val
NM_001178014.1:c.518C>T	NP_001171485.1:p.Ala173Val
XM_011512873.1:c.458C>T	XP_011511175.1:p.Ala153Val
XM_011512873.2:c.458C>T	XP_011511175.1:p.Ala153Val
NM_000532.5:c.458C>T MANE Select	NP_000523.2:p.Ala153Val
NM_001178014.2:c.518C>T	NP_001171485.1:p.Ala173Val