Canonical Allele Identifier: CA354739515

Gene: PCCB

Linked Data

• gnomAD v4: 3-136261957-G-C
• MyVariant Identifiers: chr3:g.135980799G>C (hg19) ; chr3:g.136261957G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261957G>C , CM000665.2:g.136261957G>C	GRCh38
NC_000003.11:g.135980799G>C , CM000665.1:g.135980799G>C	GRCh37
NC_000003.10:g.137463489G>C	NCBI36
NG_008939.1:g.16633G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.435G>C MANE Select	ENSP00000251654.4:p.Met145Ile
ENST00000251654.8:c.435G>C	ENSP00000251654.4:p.Met145Ile
ENST00000459873.1:c.186G>C	ENSP00000419293.1:p.Met62Ile
ENST00000462542.5:c.302G>C
ENST00000462637.5:c.366G>C	ENSP00000420391.1:p.Met122Ile
ENST00000465176.5:n.397G>C
ENST00000465423.5:c.522G>C	ENSP00000419263.1:p.Met174Ile
ENST00000466072.5:c.435G>C	ENSP00000420158.1:p.Met145Ile
ENST00000468777.5:c.528G>C	ENSP00000419129.1:p.Met176Ile
ENST00000469217.5:c.495G>C	ENSP00000419027.1:p.Met165Ile
ENST00000471595.5:c.435G>C	ENSP00000417549.1:p.Met145Ile
ENST00000473073.1:n.392G>C
ENST00000474833.5:n.168+11399G>C
ENST00000475214.5:n.349G>C
ENST00000478469.5:c.435G>C	ENSP00000420759.1:p.Met145Ile
ENST00000482086.5:c.94-7G>C	ENSP00000417253.1:n.94-7G>C
ENST00000483687.5:c.378G>C	ENSP00000420639.1:p.Met126Ile
ENST00000484181.5:c.435G>C	ENSP00000417937.1:p.Met145Ile
ENST00000490504.5:c.372+5334G>C	ENSP00000418307.1:n.372+5334G>C
ENST00000494742.5:c.186G>C	ENSP00000418020.1:p.Met62Ile
NM_000532.4:c.435G>C	NP_000523.2:p.Met145Ile
NM_001178014.1:c.495G>C	NP_001171485.1:p.Met165Ile
XM_011512873.1:c.435G>C	XP_011511175.1:p.Met145Ile
XM_011512873.2:c.435G>C	XP_011511175.1:p.Met145Ile
NM_000532.5:c.435G>C MANE Select	NP_000523.2:p.Met145Ile
NM_001178014.2:c.495G>C	NP_001171485.1:p.Met165Ile