Canonical Allele Identifier: CA354645003

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136298073G>C , CM000665.2:g.136298073G>C	GRCh38
NC_000003.11:g.136016915G>C , CM000665.1:g.136016915G>C	GRCh37
NC_000003.10:g.137499605G>C	NCBI36
NG_008939.1:g.52749G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.884+1G>C MANE Select	NP_000523.2:n.884+1G>C
ENST00000251654.9:c.884+1G>C MANE Select	ENSP00000251654.4:n.884+1G>C
NM_000532.4:c.884+1G>C	NP_000523.2:n.884+1G>C
NM_001178014.1:c.944+1G>C	NP_001171485.1:n.944+1G>C
NM_001178014.2:c.944+1G>C	NP_001171485.1:n.944+1G>C
ENST00000251654.8:c.884+1G>C	ENSP00000251654.4:n.884+1G>C
ENST00000462637.5:c.815+1G>C	ENSP00000420391.1:n.815+1G>C
ENST00000466072.5:c.884+1G>C	ENSP00000420158.1:n.884+1G>C
ENST00000468777.5:c.977+1G>C	ENSP00000419129.1:n.977+1G>C
ENST00000469217.5:c.944+1G>C	ENSP00000419027.1:n.944+1G>C
ENST00000471595.5:c.884+1G>C	ENSP00000417549.1:n.884+1G>C
ENST00000473073.1:n.841+1G>C
ENST00000474833.5:n.509+1G>C
ENST00000475214.5:n.798+1G>C
ENST00000478469.5:c.884+1G>C	ENSP00000420759.1:n.884+1G>C
ENST00000482086.5:c.536+1G>C	ENSP00000417253.1:n.536+1G>C
ENST00000483687.5:c.827+1G>C	ENSP00000420639.1:n.827+1G>C
ENST00000484181.5:c.884+1G>C	ENSP00000417937.1:n.884+1G>C
ENST00000490504.5:c.713+1G>C	ENSP00000418307.1:n.713+1G>C
XM_011512873.1:c.884+1G>C	XP_011511175.1:n.884+1G>C
XM_011512873.2:c.884+1G>C	XP_011511175.1:n.884+1G>C