Canonical Allele Identifier: CA354648970

Gene: PCCB

Linked Data

• dbSNP Id: rs1437741292
• gnomAD v2: 3-136045997-G-A
• gnomAD v3: 3-136327155-G-A
• gnomAD v4: 3-136327155-G-A
• MyVariant Identifiers: chr3:g.136045997G>A (hg19) ; chr3:g.136327155G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327155G>A , CM000665.2:g.136327155G>A	GRCh38
NC_000003.11:g.136045997G>A , CM000665.1:g.136045997G>A	GRCh37
NC_000003.10:g.137528687G>A	NCBI36
NG_008939.1:g.81831G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1199G>A MANE Select	ENSP00000251654.4:p.Gly400Asp
ENST00000251654.8:c.1199G>A	ENSP00000251654.4:p.Gly400Asp
ENST00000462637.5:c.1130G>A	ENSP00000420391.1:p.Gly377Asp
ENST00000466072.5:c.1259G>A	ENSP00000420158.1:p.Gly420Asp
ENST00000468777.5:c.1292G>A	ENSP00000419129.1:p.Gly431Asp
ENST00000469217.5:c.1259G>A	ENSP00000419027.1:p.Gly420Asp
ENST00000471595.5:c.1199G>A	ENSP00000417549.1:p.Gly400Asp
ENST00000473073.1:n.1400G>A
ENST00000474833.5:n.823+245G>A
ENST00000478469.5:c.885-7125G>A	ENSP00000420759.1:n.885-7125G>A
ENST00000482086.5:c.851G>A	ENSP00000417253.1:p.Gly284Asp
ENST00000483687.5:c.1142G>A	ENSP00000420639.1:p.Gly381Asp
ENST00000484181.5:c.1198+245G>A	ENSP00000417937.1:n.1198+245G>A
ENST00000490504.5:c.1028G>A	ENSP00000418307.1:p.Gly343Asp
NM_000532.4:c.1199G>A	NP_000523.2:p.Gly400Asp
NM_001178014.1:c.1259G>A	NP_001171485.1:p.Gly420Asp
NM_000532.5:c.1199G>A MANE Select	NP_000523.2:p.Gly400Asp
NM_001178014.2:c.1259G>A	NP_001171485.1:p.Gly420Asp