Canonical Allele Identifier: CA435957452

Gene: PCCB

Linked Data

• gnomAD v4: 3-136261996-G-T
• MyVariant Identifiers: chr3:g.135980838G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261996G>T , CM000665.2:g.136261996G>T	GRCh38
NC_000003.11:g.135980838G>T , CM000665.1:g.135980838G>T	GRCh37
NC_000003.10:g.137463528G>T	NCBI36
NG_008939.1:g.16672G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.474G>T MANE Select	ENSP00000251654.4:p.Leu158=
ENST00000251654.8:c.474G>T	ENSP00000251654.4:p.Leu158=
ENST00000459873.1:c.225G>T	ENSP00000419293.1:p.Leu75=
ENST00000462542.5:c.341G>T
ENST00000462637.5:c.405G>T	ENSP00000420391.1:p.Leu135=
ENST00000465176.5:n.436G>T
ENST00000465423.5:c.561G>T	ENSP00000419263.1:p.Leu187=
ENST00000466072.5:c.474G>T	ENSP00000420158.1:p.Leu158=
ENST00000468777.5:c.567G>T	ENSP00000419129.1:p.Leu189=
ENST00000469217.5:c.534G>T	ENSP00000419027.1:p.Leu178=
ENST00000471595.5:c.474G>T	ENSP00000417549.1:p.Leu158=
ENST00000473073.1:n.431G>T
ENST00000474833.5:n.168+11438G>T
ENST00000475214.5:n.388G>T
ENST00000478469.5:c.474G>T	ENSP00000420759.1:p.Leu158=
ENST00000482086.5:c.126G>T	ENSP00000417253.1:p.Leu42=
ENST00000483687.5:c.417G>T	ENSP00000420639.1:p.Leu139=
ENST00000484181.5:c.474G>T	ENSP00000417937.1:p.Leu158=
ENST00000490504.5:c.372+5373G>T	ENSP00000418307.1:n.372+5373G>T
ENST00000494742.5:c.225G>T	ENSP00000418020.1:p.Leu75=
NM_000532.4:c.474G>T	NP_000523.2:p.Leu158=
NM_001178014.1:c.534G>T	NP_001171485.1:p.Leu178=
XM_011512873.1:c.474G>T	XP_011511175.1:p.Leu158=
XM_011512873.2:c.474G>T	XP_011511175.1:p.Leu158=
NM_000532.5:c.474G>T MANE Select	NP_000523.2:p.Leu158=
NM_001178014.2:c.534G>T	NP_001171485.1:p.Leu178=