Canonical Allele Identifier: CA435957476

Gene: PCCB

Linked Data

• dbSNP Id: rs1241363907
• gnomAD v2: 3-135980865-A-G
• gnomAD v3: 3-136262023-A-G
• gnomAD v4: 3-136262023-A-G
• MyVariant Identifiers: chr3:g.135980865A>G (hg19) ; chr3:g.136262023A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262023A>G , CM000665.2:g.136262023A>G	GRCh38
NC_000003.11:g.135980865A>G , CM000665.1:g.135980865A>G	GRCh37
NC_000003.10:g.137463555A>G	NCBI36
NG_008939.1:g.16699A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.501A>G MANE Select	ENSP00000251654.4:p.Gln167=
ENST00000251654.8:c.501A>G	ENSP00000251654.4:p.Gln167=
ENST00000459873.1:c.252A>G	ENSP00000419293.1:p.Gln84=
ENST00000462542.5:c.368A>G
ENST00000462637.5:c.432A>G	ENSP00000420391.1:p.Gln144=
ENST00000465176.5:n.463A>G
ENST00000466072.5:c.501A>G	ENSP00000420158.1:p.Gln167=
ENST00000468777.5:c.594A>G	ENSP00000419129.1:p.Gln198=
ENST00000469217.5:c.561A>G	ENSP00000419027.1:p.Gln187=
ENST00000471595.5:c.501A>G	ENSP00000417549.1:p.Gln167=
ENST00000473073.1:n.458A>G
ENST00000474833.5:n.168+11465A>G
ENST00000475214.5:n.415A>G
ENST00000478469.5:c.501A>G	ENSP00000420759.1:p.Gln167=
ENST00000482086.5:c.153A>G	ENSP00000417253.1:p.Gln51=
ENST00000483687.5:c.444A>G	ENSP00000420639.1:p.Gln148=
ENST00000484181.5:c.501A>G	ENSP00000417937.1:p.Gln167=
ENST00000490504.5:c.372+5400A>G	ENSP00000418307.1:n.372+5400A>G
ENST00000494742.5:c.252A>G	ENSP00000418020.1:p.Gln84=
NM_000532.4:c.501A>G	NP_000523.2:p.Gln167=
NM_001178014.1:c.561A>G	NP_001171485.1:p.Gln187=
XM_011512873.1:c.501A>G	XP_011511175.1:p.Gln167=
XM_011512873.2:c.501A>G	XP_011511175.1:p.Gln167=
NM_000532.5:c.501A>G MANE Select	NP_000523.2:p.Gln167=
NM_001178014.2:c.561A>G	NP_001171485.1:p.Gln187=