Canonical Allele Identifier: CA354739541

Gene: PCCB

Linked Data

• dbSNP Id: rs1941839975
• gnomAD v4: 3-136261964-G-T
• MyVariant Identifiers: chr3:g.135980806G>T (hg19) ; chr3:g.136261964G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261964G>T , CM000665.2:g.136261964G>T	GRCh38
NC_000003.11:g.135980806G>T , CM000665.1:g.135980806G>T	GRCh37
NC_000003.10:g.137463496G>T	NCBI36
NG_008939.1:g.16640G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.442G>T MANE Select	ENSP00000251654.4:p.Ala148Ser
ENST00000251654.8:c.442G>T	ENSP00000251654.4:p.Ala148Ser
ENST00000459873.1:c.193G>T	ENSP00000419293.1:p.Ala65Ser
ENST00000462542.5:c.309G>T
ENST00000462637.5:c.373G>T	ENSP00000420391.1:p.Ala125Ser
ENST00000465176.5:n.404G>T
ENST00000465423.5:c.529G>T	ENSP00000419263.1:p.Ala177Ser
ENST00000466072.5:c.442G>T	ENSP00000420158.1:p.Ala148Ser
ENST00000468777.5:c.535G>T	ENSP00000419129.1:p.Ala179Ser
ENST00000469217.5:c.502G>T	ENSP00000419027.1:p.Ala168Ser
ENST00000471595.5:c.442G>T	ENSP00000417549.1:p.Ala148Ser
ENST00000473073.1:n.399G>T
ENST00000474833.5:n.168+11406G>T
ENST00000475214.5:n.356G>T
ENST00000478469.5:c.442G>T	ENSP00000420759.1:p.Ala148Ser
ENST00000482086.5:c.94G>T	ENSP00000417253.1:p.Ala32Ser
ENST00000483687.5:c.385G>T	ENSP00000420639.1:p.Ala129Ser
ENST00000484181.5:c.442G>T	ENSP00000417937.1:p.Ala148Ser
ENST00000490504.5:c.372+5341G>T	ENSP00000418307.1:n.372+5341G>T
ENST00000494742.5:c.193G>T	ENSP00000418020.1:p.Ala65Ser
NM_000532.4:c.442G>T	NP_000523.2:p.Ala148Ser
NM_001178014.1:c.502G>T	NP_001171485.1:p.Ala168Ser
XM_011512873.1:c.442G>T	XP_011511175.1:p.Ala148Ser
XM_011512873.2:c.442G>T	XP_011511175.1:p.Ala148Ser
NM_000532.5:c.442G>T MANE Select	NP_000523.2:p.Ala148Ser
NM_001178014.2:c.502G>T	NP_001171485.1:p.Ala168Ser