Canonical Allele Identifier: CA354644756

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136298023C>T , CM000665.2:g.136298023C>T	GRCh38
NC_000003.11:g.136016865C>T , CM000665.1:g.136016865C>T	GRCh37
NC_000003.10:g.137499555C>T	NCBI36
NG_008939.1:g.52699C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.835C>T MANE Select	NP_000523.2:p.Pro279Ser
ENST00000251654.9:c.835C>T MANE Select	ENSP00000251654.4:p.Pro279Ser
NM_000532.4:c.835C>T	NP_000523.2:p.Pro279Ser
NM_001178014.1:c.895C>T	NP_001171485.1:p.Pro299Ser
NM_001178014.2:c.895C>T	NP_001171485.1:p.Pro299Ser
ENST00000251654.8:c.835C>T	ENSP00000251654.4:p.Pro279Ser
ENST00000462637.5:c.766C>T	ENSP00000420391.1:p.Pro256Ser
ENST00000466072.5:c.835C>T	ENSP00000420158.1:p.Pro279Ser
ENST00000468777.5:c.928C>T	ENSP00000419129.1:p.Pro310Ser
ENST00000469217.5:c.895C>T	ENSP00000419027.1:p.Pro299Ser
ENST00000471595.5:c.835C>T	ENSP00000417549.1:p.Pro279Ser
ENST00000473073.1:n.792C>T
ENST00000474833.5:n.460C>T
ENST00000475214.5:n.749C>T
ENST00000478469.5:c.835C>T	ENSP00000420759.1:p.Pro279Ser
ENST00000482086.5:c.487C>T	ENSP00000417253.1:p.Pro163Ser
ENST00000483687.5:c.778C>T	ENSP00000420639.1:p.Pro260Ser
ENST00000484181.5:c.835C>T	ENSP00000417937.1:p.Pro279Ser
ENST00000490504.5:c.664C>T	ENSP00000418307.1:p.Pro222Ser
XM_011512873.1:c.835C>T	XP_011511175.1:p.Pro279Ser
XM_011512873.2:c.835C>T	XP_011511175.1:p.Pro279Ser