Canonical Allele Identifier: CA354648766

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136326884T>C , CM000665.2:g.136326884T>C	GRCh38
NC_000003.11:g.136045726T>C , CM000665.1:g.136045726T>C	GRCh37
NC_000003.10:g.137528416T>C	NCBI36
NG_008939.1:g.81560T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1172T>C MANE Select	NP_000523.2:p.Phe391Ser
ENST00000251654.9:c.1172T>C MANE Select	ENSP00000251654.4:p.Phe391Ser
NM_000532.4:c.1172T>C	NP_000523.2:p.Phe391Ser
NM_001178014.1:c.1232T>C	NP_001171485.1:p.Phe411Ser
NM_001178014.2:c.1232T>C	NP_001171485.1:p.Phe411Ser
ENST00000251654.8:c.1172T>C	ENSP00000251654.4:p.Phe391Ser
ENST00000462637.5:c.1103T>C	ENSP00000420391.1:p.Phe368Ser
ENST00000466072.5:c.1232T>C	ENSP00000420158.1:p.Phe411Ser
ENST00000468777.5:c.1265T>C	ENSP00000419129.1:p.Phe422Ser
ENST00000469217.5:c.1232T>C	ENSP00000419027.1:p.Phe411Ser
ENST00000471595.5:c.1172T>C	ENSP00000417549.1:p.Phe391Ser
ENST00000473073.1:n.1129T>C
ENST00000474833.5:n.797T>C
ENST00000475214.5:n.1086T>C
ENST00000478469.5:c.885-7396T>C	ENSP00000420759.1:n.885-7396T>C
ENST00000482086.5:c.824T>C	ENSP00000417253.1:p.Phe275Ser
ENST00000483687.5:c.1115T>C	ENSP00000420639.1:p.Phe372Ser
ENST00000484181.5:c.1172T>C	ENSP00000417937.1:p.Phe391Ser
ENST00000490504.5:c.1001T>C	ENSP00000418307.1:p.Phe334Ser