Canonical Allele Identifier: CA354739579

Gene: PCCB

Linked Data

• gnomAD v4: 3-136261976-G-T
• MyVariant Identifiers: chr3:g.135980818G>T (hg19) ; chr3:g.136261976G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261976G>T , CM000665.2:g.136261976G>T	GRCh38
NC_000003.11:g.135980818G>T , CM000665.1:g.135980818G>T	GRCh37
NC_000003.10:g.137463508G>T	NCBI36
NG_008939.1:g.16652G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.454G>T MANE Select	ENSP00000251654.4:p.Gly152Trp
ENST00000251654.8:c.454G>T	ENSP00000251654.4:p.Gly152Trp
ENST00000459873.1:c.205G>T	ENSP00000419293.1:p.Gly69Trp
ENST00000462542.5:c.321G>T
ENST00000462637.5:c.385G>T	ENSP00000420391.1:p.Gly129Trp
ENST00000465176.5:n.416G>T
ENST00000465423.5:c.541G>T	ENSP00000419263.1:p.Gly181Trp
ENST00000466072.5:c.454G>T	ENSP00000420158.1:p.Gly152Trp
ENST00000468777.5:c.547G>T	ENSP00000419129.1:p.Gly183Trp
ENST00000469217.5:c.514G>T	ENSP00000419027.1:p.Gly172Trp
ENST00000471595.5:c.454G>T	ENSP00000417549.1:p.Gly152Trp
ENST00000473073.1:n.411G>T
ENST00000474833.5:n.168+11418G>T
ENST00000475214.5:n.368G>T
ENST00000478469.5:c.454G>T	ENSP00000420759.1:p.Gly152Trp
ENST00000482086.5:c.106G>T	ENSP00000417253.1:p.Gly36Trp
ENST00000483687.5:c.397G>T	ENSP00000420639.1:p.Gly133Trp
ENST00000484181.5:c.454G>T	ENSP00000417937.1:p.Gly152Trp
ENST00000490504.5:c.372+5353G>T	ENSP00000418307.1:n.372+5353G>T
ENST00000494742.5:c.205G>T	ENSP00000418020.1:p.Gly69Trp
NM_000532.4:c.454G>T	NP_000523.2:p.Gly152Trp
NM_001178014.1:c.514G>T	NP_001171485.1:p.Gly172Trp
XM_011512873.1:c.454G>T	XP_011511175.1:p.Gly152Trp
XM_011512873.2:c.454G>T	XP_011511175.1:p.Gly152Trp
NM_000532.5:c.454G>T MANE Select	NP_000523.2:p.Gly152Trp
NM_001178014.2:c.514G>T	NP_001171485.1:p.Gly172Trp