Canonical Allele Identifier: CA354650095

Gene: PCCB

Linked Data

• gnomAD v4: 3-136329956-G-A
• MyVariant Identifiers: chr3:g.136048798G>A (hg19) ; chr3:g.136329956G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329956G>A , CM000665.2:g.136329956G>A	GRCh38
NC_000003.11:g.136048798G>A , CM000665.1:g.136048798G>A	GRCh37
NC_000003.10:g.137531488G>A	NCBI36
NG_008939.1:g.84632G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1550G>A MANE Select	ENSP00000251654.4:p.Cys517Tyr
ENST00000251654.8:c.1550G>A	ENSP00000251654.4:p.Cys517Tyr
ENST00000462637.5:c.1481G>A	ENSP00000420391.1:p.Cys494Tyr
ENST00000466072.5:c.1610G>A	ENSP00000420158.1:p.Cys537Tyr
ENST00000468777.5:c.1643G>A	ENSP00000419129.1:p.Cys548Tyr
ENST00000469217.5:c.1610G>A	ENSP00000419027.1:p.Cys537Tyr
ENST00000471595.5:c.1550G>A	ENSP00000417549.1:p.Cys517Tyr
ENST00000473073.1:n.1751G>A
ENST00000478469.5:c.885-4324G>A	ENSP00000420759.1:n.885-4324G>A
ENST00000482086.5:c.1202G>A	ENSP00000417253.1:p.Cys401Tyr
ENST00000483687.5:c.1493G>A	ENSP00000420639.1:p.Cys498Tyr
ENST00000484181.5:c.*231G>A	ENSP00000417937.1:n.*231G>A
ENST00000490504.5:c.1379G>A	ENSP00000418307.1:p.Cys460Tyr
NM_000532.4:c.1550G>A	NP_000523.2:p.Cys517Tyr
NM_001178014.1:c.1610G>A	NP_001171485.1:p.Cys537Tyr
NM_000532.5:c.1550G>A MANE Select	NP_000523.2:p.Cys517Tyr
NM_001178014.2:c.1610G>A	NP_001171485.1:p.Cys537Tyr