Canonical Allele Identifier: CA435957444

Gene: PCCB

Linked Data

• gnomAD v4: 3-136261990-T-C
• MyVariant Identifiers: chr3:g.135980832T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261990T>C , CM000665.2:g.136261990T>C	GRCh38
NC_000003.11:g.135980832T>C , CM000665.1:g.135980832T>C	GRCh37
NC_000003.10:g.137463522T>C	NCBI36
NG_008939.1:g.16666T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.468T>C MANE Select	ENSP00000251654.4:p.Ile156=
ENST00000251654.8:c.468T>C	ENSP00000251654.4:p.Ile156=
ENST00000459873.1:c.219T>C	ENSP00000419293.1:p.Ile73=
ENST00000462542.5:c.335T>C
ENST00000462637.5:c.399T>C	ENSP00000420391.1:p.Ile133=
ENST00000465176.5:n.430T>C
ENST00000465423.5:c.555T>C	ENSP00000419263.1:p.Ile185=
ENST00000466072.5:c.468T>C	ENSP00000420158.1:p.Ile156=
ENST00000468777.5:c.561T>C	ENSP00000419129.1:p.Ile187=
ENST00000469217.5:c.528T>C	ENSP00000419027.1:p.Ile176=
ENST00000471595.5:c.468T>C	ENSP00000417549.1:p.Ile156=
ENST00000473073.1:n.425T>C
ENST00000474833.5:n.168+11432T>C
ENST00000475214.5:n.382T>C
ENST00000478469.5:c.468T>C	ENSP00000420759.1:p.Ile156=
ENST00000482086.5:c.120T>C	ENSP00000417253.1:p.Ile40=
ENST00000483687.5:c.411T>C	ENSP00000420639.1:p.Ile137=
ENST00000484181.5:c.468T>C	ENSP00000417937.1:p.Ile156=
ENST00000490504.5:c.372+5367T>C	ENSP00000418307.1:n.372+5367T>C
ENST00000494742.5:c.219T>C	ENSP00000418020.1:p.Ile73=
NM_000532.4:c.468T>C	NP_000523.2:p.Ile156=
NM_001178014.1:c.528T>C	NP_001171485.1:p.Ile176=
XM_011512873.1:c.468T>C	XP_011511175.1:p.Ile156=
XM_011512873.2:c.468T>C	XP_011511175.1:p.Ile156=
NM_000532.5:c.468T>C MANE Select	NP_000523.2:p.Ile156=
NM_001178014.2:c.528T>C	NP_001171485.1:p.Ile176=