Canonical Allele Identifier: CA2631905

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136298072G>C , CM000665.2:g.136298072G>C	GRCh38
NC_000003.11:g.136016914G>C , CM000665.1:g.136016914G>C	GRCh37
NC_000003.10:g.137499604G>C	NCBI36
NG_008939.1:g.52748G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.884G>C MANE Select	NP_000523.2:p.Ser295Thr
ENST00000251654.9:c.884G>C MANE Select	ENSP00000251654.4:p.Ser295Thr
NM_000532.4:c.884G>C	NP_000523.2:p.Ser295Thr
NM_001178014.1:c.944G>C	NP_001171485.1:p.Ser315Thr
NM_001178014.2:c.944G>C	NP_001171485.1:p.Ser315Thr
ENST00000251654.8:c.884G>C	ENSP00000251654.4:p.Ser295Thr
ENST00000462637.5:c.815G>C	ENSP00000420391.1:p.Ser272Thr
ENST00000466072.5:c.884G>C	ENSP00000420158.1:p.Ser295Thr
ENST00000468777.5:c.977G>C	ENSP00000419129.1:p.Ser326Thr
ENST00000469217.5:c.944G>C	ENSP00000419027.1:p.Ser315Thr
ENST00000471595.5:c.884G>C	ENSP00000417549.1:p.Ser295Thr
ENST00000473073.1:n.841G>C
ENST00000474833.5:n.509G>C
ENST00000475214.5:n.798G>C
ENST00000478469.5:c.884G>C	ENSP00000420759.1:p.Ser295Thr
ENST00000482086.5:c.536G>C	ENSP00000417253.1:p.Ser179Thr
ENST00000483687.5:c.827G>C	ENSP00000420639.1:p.Ser276Thr
ENST00000484181.5:c.884G>C	ENSP00000417937.1:p.Ser295Thr
ENST00000490504.5:c.713G>C	ENSP00000418307.1:p.Ser238Thr
XM_011512873.1:c.884G>C	XP_011511175.1:p.Ser295Thr
XM_011512873.2:c.884G>C	XP_011511175.1:p.Ser295Thr