Canonical Allele Identifier: CA2631997

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136317061T>C , CM000665.2:g.136317061T>C	GRCh38
NC_000003.11:g.136035903T>C , CM000665.1:g.136035903T>C	GRCh37
NC_000003.10:g.137518593T>C	NCBI36
NG_008939.1:g.71737T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1087T>C MANE Select	NP_000523.2:p.Ser363Pro
ENST00000251654.9:c.1087T>C MANE Select	ENSP00000251654.4:p.Ser363Pro
NM_000532.4:c.1087T>C	NP_000523.2:p.Ser363Pro
NM_001178014.1:c.1147T>C	NP_001171485.1:p.Ser383Pro
NM_001178014.2:c.1147T>C	NP_001171485.1:p.Ser383Pro
ENST00000251654.8:c.1087T>C	ENSP00000251654.4:p.Ser363Pro
ENST00000462637.5:c.1018T>C	ENSP00000420391.1:p.Ser340Pro
ENST00000466072.5:c.1087T>C	ENSP00000420158.1:p.Ser363Pro
ENST00000468777.5:c.1180T>C	ENSP00000419129.1:p.Ser394Pro
ENST00000469217.5:c.1147T>C	ENSP00000419027.1:p.Ser383Pro
ENST00000471595.5:c.1087T>C	ENSP00000417549.1:p.Ser363Pro
ENST00000473073.1:n.1044T>C
ENST00000474833.5:n.712T>C
ENST00000475214.5:n.1001T>C
ENST00000478469.5:c.885-17219T>C	ENSP00000420759.1:n.885-17219T>C
ENST00000482086.5:c.739T>C	ENSP00000417253.1:p.Ser247Pro
ENST00000483687.5:c.1030T>C	ENSP00000420639.1:p.Ser344Pro
ENST00000484181.5:c.1087T>C	ENSP00000417937.1:p.Ser363Pro
ENST00000490504.5:c.916T>C	ENSP00000418307.1:p.Ser306Pro
XM_011512873.1:c.1087T>C	XP_011511175.1:p.Ser363Pro
XM_011512873.2:c.1087T>C	XP_011511175.1:p.Ser363Pro