Canonical Allele Identifier: CA354643615

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136293804A>C , CM000665.2:g.136293804A>C	GRCh38
NC_000003.11:g.136012646A>C , CM000665.1:g.136012646A>C	GRCh37
NC_000003.10:g.137495336A>C	NCBI36
NG_008939.1:g.48480A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.703A>C MANE Select	NP_000523.2:p.Thr235Pro
ENST00000251654.9:c.703A>C MANE Select	ENSP00000251654.4:p.Thr235Pro
NM_000532.4:c.703A>C	NP_000523.2:p.Thr235Pro
NM_001178014.1:c.763A>C	NP_001171485.1:p.Thr255Pro
NM_001178014.2:c.763A>C	NP_001171485.1:p.Thr255Pro
ENST00000251654.8:c.703A>C	ENSP00000251654.4:p.Thr235Pro
ENST00000462637.5:c.634A>C	ENSP00000420391.1:p.Thr212Pro
ENST00000466072.5:c.703A>C	ENSP00000420158.1:p.Thr235Pro
ENST00000468777.5:c.796A>C	ENSP00000419129.1:p.Thr266Pro
ENST00000469217.5:c.763A>C	ENSP00000419027.1:p.Thr255Pro
ENST00000471595.5:c.703A>C	ENSP00000417549.1:p.Thr235Pro
ENST00000473073.1:n.660A>C
ENST00000474833.5:n.328A>C
ENST00000475214.5:n.617A>C
ENST00000478469.5:c.703A>C	ENSP00000420759.1:p.Thr235Pro
ENST00000482086.5:c.355A>C	ENSP00000417253.1:p.Thr119Pro
ENST00000483687.5:c.646A>C	ENSP00000420639.1:p.Thr216Pro
ENST00000484181.5:c.703A>C	ENSP00000417937.1:p.Thr235Pro
ENST00000490504.5:c.532A>C	ENSP00000418307.1:p.Thr178Pro
XM_011512873.1:c.703A>C	XP_011511175.1:p.Thr235Pro
XM_011512873.2:c.703A>C	XP_011511175.1:p.Thr235Pro