Canonical Allele Identifier: CA1404303720

Gene: PCCB

Linked Data

• ClinVar Variation Id: 2757783
• ClinVar RCV Id: RCV003511907
• dbSNP Id: rs1935349481
• gnomAD v4: 3-136327148-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327148T>C , CM000665.2:g.136327148T>C	GRCh38
NC_000003.11:g.136045990T>C , CM000665.1:g.136045990T>C	GRCh37
NC_000003.10:g.137528680T>C	NCBI36
NG_008939.1:g.81824T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1199-7T>C MANE Select	ENSP00000251654.4:n.1199-7T>C
ENST00000251654.8:c.1199-7T>C	ENSP00000251654.4:n.1199-7T>C
ENST00000462637.5:c.1130-7T>C	ENSP00000420391.1:n.1130-7T>C
ENST00000466072.5:c.1259-7T>C	ENSP00000420158.1:n.1259-7T>C
ENST00000468777.5:c.1292-7T>C	ENSP00000419129.1:n.1292-7T>C
ENST00000469217.5:c.1259-7T>C	ENSP00000419027.1:n.1259-7T>C
ENST00000471595.5:c.1199-7T>C	ENSP00000417549.1:n.1199-7T>C
ENST00000473073.1:n.1393T>C
ENST00000474833.5:n.823+238T>C
ENST00000478469.5:c.885-7132T>C	ENSP00000420759.1:n.885-7132T>C
ENST00000482086.5:c.851-7T>C	ENSP00000417253.1:n.851-7T>C
ENST00000483687.5:c.1142-7T>C	ENSP00000420639.1:n.1142-7T>C
ENST00000484181.5:c.1198+238T>C	ENSP00000417937.1:n.1198+238T>C
ENST00000490504.5:c.1028-7T>C	ENSP00000418307.1:n.1028-7T>C
NM_000532.4:c.1199-7T>C	NP_000523.2:n.1199-7T>C
NM_001178014.1:c.1259-7T>C	NP_001171485.1:n.1259-7T>C
NM_000532.5:c.1199-7T>C MANE Select	NP_000523.2:n.1199-7T>C
NM_001178014.2:c.1259-7T>C	NP_001171485.1:n.1259-7T>C