Canonical Allele Identifier: CA1053911211
Gene: PCCB HGNC NCBI

Linked Data

dbSNP Id: rs1941830264

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136261673G>A , CM000665.2:g.136261673G>A GRCh38
NC_000003.11:g.135980515G>A , CM000665.1:g.135980515G>A GRCh37
NC_000003.10:g.137463205G>A NCBI36
NG_008939.1:g.16349G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251654.9:c.430-279G>A MANE Select ENSP00000251654.4:n.430-279G>A
ENST00000251654.8:c.430-279G>A ENSP00000251654.4:n.430-279G>A
ENST00000459873.1:c.181-279G>A ENSP00000419293.1:n.181-279G>A
ENST00000462542.5:c.297-279G>A
ENST00000462637.5:c.361-279G>A ENSP00000420391.1:n.361-279G>A
ENST00000465176.5:n.392-279G>A
ENST00000465423.5:c.517-279G>A ENSP00000419263.1:n.517-279G>A
ENST00000466072.5:c.430-279G>A ENSP00000420158.1:n.430-279G>A
ENST00000468777.5:c.523-279G>A ENSP00000419129.1:n.523-279G>A
ENST00000469217.5:c.490-279G>A ENSP00000419027.1:n.490-279G>A
ENST00000471595.5:c.430-279G>A ENSP00000417549.1:n.430-279G>A
ENST00000473073.1:n.387-279G>A
ENST00000474833.5:n.168+11115G>A
ENST00000475214.5:n.344-279G>A
ENST00000478469.5:c.430-279G>A ENSP00000420759.1:n.430-279G>A
ENST00000482086.5:c.94-291G>A ENSP00000417253.1:n.94-291G>A
ENST00000483687.5:c.373-279G>A ENSP00000420639.1:n.373-279G>A
ENST00000484181.5:c.430-279G>A ENSP00000417937.1:n.430-279G>A
ENST00000490504.5:c.372+5050G>A ENSP00000418307.1:n.372+5050G>A
ENST00000494742.5:c.181-279G>A ENSP00000418020.1:n.181-279G>A
NM_000532.4:c.430-279G>A NP_000523.2:n.430-279G>A
NM_001178014.1:c.490-279G>A NP_001171485.1:n.490-279G>A
XM_011512873.1:c.430-279G>A XP_011511175.1:n.430-279G>A
XM_011512873.2:c.430-279G>A XP_011511175.1:n.430-279G>A
NM_000532.5:c.430-279G>A MANE Select NP_000523.2:n.430-279G>A
NM_001178014.2:c.490-279G>A NP_001171485.1:n.490-279G>A