Canonical Allele Identifier: CA2631783
Community Standard Title: NM_000532.5(PCCB):c.561C>T (p.Ser187=)
Gene: PCCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136283854C>T , CM000665.2:g.136283854C>T GRCh38
NC_000003.11:g.136002696C>T , CM000665.1:g.136002696C>T GRCh37
NC_000003.10:g.137485386C>T NCBI36
NG_008939.1:g.38530C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000532.5:c.561C>T MANE Select NP_000523.2:p.Ser187=
ENST00000251654.9:c.561C>T MANE Select ENSP00000251654.4:p.Ser187=
NM_000532.4:c.561C>T NP_000523.2:p.Ser187=
NM_001178014.1:c.621C>T NP_001171485.1:p.Ser207=
NM_001178014.2:c.621C>T NP_001171485.1:p.Ser207=
ENST00000251654.8:c.561C>T ENSP00000251654.4:p.Ser187=
ENST00000459873.1:c.312C>T ENSP00000419293.1:p.Ser104=
ENST00000462542.5:c.428C>T
ENST00000462637.5:c.492C>T ENSP00000420391.1:p.Ser164=
ENST00000465176.5:n.523C>T
ENST00000466072.5:c.561C>T ENSP00000420158.1:p.Ser187=
ENST00000468777.5:c.654C>T ENSP00000419129.1:p.Ser218=
ENST00000469217.5:c.621C>T ENSP00000419027.1:p.Ser207=
ENST00000471595.5:c.561C>T ENSP00000417549.1:p.Ser187=
ENST00000473073.1:n.518C>T
ENST00000474833.5:n.186C>T
ENST00000475214.5:n.475C>T
ENST00000478469.5:c.561C>T ENSP00000420759.1:p.Ser187=
ENST00000482086.5:c.213C>T ENSP00000417253.1:p.Ser71=
ENST00000483687.5:c.504C>T ENSP00000420639.1:p.Ser168=
ENST00000484181.5:c.561C>T ENSP00000417937.1:p.Ser187=
ENST00000490504.5:c.390C>T ENSP00000418307.1:p.Ser130=
XM_011512873.1:c.561C>T XP_011511175.1:p.Ser187=
XM_011512873.2:c.561C>T XP_011511175.1:p.Ser187=