Canonical Allele Identifier: CA354645664

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136301068T>A , CM000665.2:g.136301068T>A	GRCh38
NC_000003.11:g.136019910T>A , CM000665.1:g.136019910T>A	GRCh37
NC_000003.10:g.137502600T>A	NCBI36
NG_008939.1:g.55744T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.923T>A MANE Select	NP_000523.2:p.Leu308Ter
ENST00000251654.9:c.923T>A MANE Select	ENSP00000251654.4:p.Leu308Ter
NM_000532.4:c.923T>A	NP_000523.2:p.Leu308Ter
NM_001178014.1:c.983T>A	NP_001171485.1:p.Leu328Ter
NM_001178014.2:c.983T>A	NP_001171485.1:p.Leu328Ter
ENST00000251654.8:c.923T>A	ENSP00000251654.4:p.Leu308Ter
ENST00000462637.5:c.854T>A	ENSP00000420391.1:p.Leu285Ter
ENST00000466072.5:c.923T>A	ENSP00000420158.1:p.Leu308Ter
ENST00000468777.5:c.1016T>A	ENSP00000419129.1:p.Leu339Ter
ENST00000469217.5:c.983T>A	ENSP00000419027.1:p.Leu328Ter
ENST00000471595.5:c.923T>A	ENSP00000417549.1:p.Leu308Ter
ENST00000473073.1:n.880T>A
ENST00000474833.5:n.548T>A
ENST00000475214.5:n.837T>A
ENST00000478469.5:c.884+2996T>A	ENSP00000420759.1:n.884+2996T>A
ENST00000482086.5:c.575T>A	ENSP00000417253.1:p.Leu192Ter
ENST00000483687.5:c.866T>A	ENSP00000420639.1:p.Leu289Ter
ENST00000484181.5:c.923T>A	ENSP00000417937.1:p.Leu308Ter
ENST00000490504.5:c.752T>A	ENSP00000418307.1:p.Leu251Ter
XM_011512873.1:c.923T>A	XP_011511175.1:p.Leu308Ter
XM_011512873.2:c.923T>A	XP_011511175.1:p.Leu308Ter