Canonical Allele Identifier: CA354648964

Gene: PCCB

Linked Data

• ClinVar Variation Id: 2677515
• ClinVar RCV Id: RCV003463227
• MyVariant Identifiers: chr3:g.136045996G>A (hg19) ; chr3:g.136327154G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327154G>A , CM000665.2:g.136327154G>A	GRCh38
NC_000003.11:g.136045996G>A , CM000665.1:g.136045996G>A	GRCh37
NC_000003.10:g.137528686G>A	NCBI36
NG_008939.1:g.81830G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1199-1G>A MANE Select	ENSP00000251654.4:n.1199-1G>A
ENST00000251654.8:c.1199-1G>A	ENSP00000251654.4:n.1199-1G>A
ENST00000462637.5:c.1130-1G>A	ENSP00000420391.1:n.1130-1G>A
ENST00000466072.5:c.1259-1G>A	ENSP00000420158.1:n.1259-1G>A
ENST00000468777.5:c.1292-1G>A	ENSP00000419129.1:n.1292-1G>A
ENST00000469217.5:c.1259-1G>A	ENSP00000419027.1:n.1259-1G>A
ENST00000471595.5:c.1199-1G>A	ENSP00000417549.1:n.1199-1G>A
ENST00000473073.1:n.1399G>A
ENST00000474833.5:n.823+244G>A
ENST00000478469.5:c.885-7126G>A	ENSP00000420759.1:n.885-7126G>A
ENST00000482086.5:c.851-1G>A	ENSP00000417253.1:n.851-1G>A
ENST00000483687.5:c.1142-1G>A	ENSP00000420639.1:n.1142-1G>A
ENST00000484181.5:c.1198+244G>A	ENSP00000417937.1:n.1198+244G>A
ENST00000490504.5:c.1028-1G>A	ENSP00000418307.1:n.1028-1G>A
NM_000532.4:c.1199-1G>A	NP_000523.2:n.1199-1G>A
NM_001178014.1:c.1259-1G>A	NP_001171485.1:n.1259-1G>A
NM_000532.5:c.1199-1G>A MANE Select	NP_000523.2:n.1199-1G>A
NM_001178014.2:c.1259-1G>A	NP_001171485.1:n.1259-1G>A