Canonical Allele Identifier: CA2632019

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136326797T>C , CM000665.2:g.136326797T>C	GRCh38
NC_000003.11:g.136045639T>C , CM000665.1:g.136045639T>C	GRCh37
NC_000003.10:g.137528329T>C	NCBI36
NG_008939.1:g.81473T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1091-6T>C MANE Select	NP_000523.2:n.1091-6T>C
ENST00000251654.9:c.1091-6T>C MANE Select	ENSP00000251654.4:n.1091-6T>C
NM_000532.4:c.1091-6T>C	NP_000523.2:n.1091-6T>C
NM_001178014.1:c.1151-6T>C	NP_001171485.1:n.1151-6T>C
NM_001178014.2:c.1151-6T>C	NP_001171485.1:n.1151-6T>C
ENST00000251654.8:c.1091-6T>C	ENSP00000251654.4:n.1091-6T>C
ENST00000462637.5:c.1022-6T>C	ENSP00000420391.1:n.1022-6T>C
ENST00000466072.5:c.1151-6T>C	ENSP00000420158.1:n.1151-6T>C
ENST00000468777.5:c.1184-6T>C	ENSP00000419129.1:n.1184-6T>C
ENST00000469217.5:c.1151-6T>C	ENSP00000419027.1:n.1151-6T>C
ENST00000471595.5:c.1091-6T>C	ENSP00000417549.1:n.1091-6T>C
ENST00000473073.1:n.1048-6T>C
ENST00000474833.5:n.716-6T>C
ENST00000475214.5:n.1005-6T>C
ENST00000478469.5:c.885-7483T>C	ENSP00000420759.1:n.885-7483T>C
ENST00000482086.5:c.743-6T>C	ENSP00000417253.1:n.743-6T>C
ENST00000483687.5:c.1034-6T>C	ENSP00000420639.1:n.1034-6T>C
ENST00000484181.5:c.1091-6T>C	ENSP00000417937.1:n.1091-6T>C
ENST00000490504.5:c.920-6T>C	ENSP00000418307.1:n.920-6T>C