Canonical Allele Identifier: CA354649264

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327632A>C , CM000665.2:g.136327632A>C	GRCh38
NC_000003.11:g.136046474A>C , CM000665.1:g.136046474A>C	GRCh37
NC_000003.10:g.137529164A>C	NCBI36
NG_008939.1:g.82308A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1300-2A>C MANE Select	NP_000523.2:n.1300-2A>C
ENST00000251654.9:c.1300-2A>C MANE Select	ENSP00000251654.4:n.1300-2A>C
NM_000532.4:c.1300-2A>C	NP_000523.2:n.1300-2A>C
NM_001178014.1:c.1360-2A>C	NP_001171485.1:n.1360-2A>C
NM_001178014.2:c.1360-2A>C	NP_001171485.1:n.1360-2A>C
ENST00000251654.8:c.1300-2A>C	ENSP00000251654.4:n.1300-2A>C
ENST00000462637.5:c.1231-2A>C	ENSP00000420391.1:n.1231-2A>C
ENST00000466072.5:c.1360-2A>C	ENSP00000420158.1:n.1360-2A>C
ENST00000468777.5:c.1393-2A>C	ENSP00000419129.1:n.1393-2A>C
ENST00000469217.5:c.1360-2A>C	ENSP00000419027.1:n.1360-2A>C
ENST00000471595.5:c.1300-2A>C	ENSP00000417549.1:n.1300-2A>C
ENST00000473073.1:n.1501-2A>C
ENST00000474833.5:n.824-2A>C
ENST00000478469.5:c.885-6648A>C	ENSP00000420759.1:n.885-6648A>C
ENST00000482086.5:c.952-2A>C	ENSP00000417253.1:n.952-2A>C
ENST00000483687.5:c.1243-2A>C	ENSP00000420639.1:n.1243-2A>C
ENST00000484181.5:c.1199-2A>C	ENSP00000417937.1:n.1199-2A>C
ENST00000490504.5:c.1129-2A>C	ENSP00000418307.1:n.1129-2A>C