Canonical Allele Identifier: CA2577912143

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327071A>T , CM000665.2:g.136327071A>T	GRCh38
NC_000003.11:g.136045913A>T , CM000665.1:g.136045913A>T	GRCh37
NC_000003.10:g.137528603A>T	NCBI36
NG_008939.1:g.81747A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1199-84A>T MANE Select	ENSP00000251654.4:n.1199-84A>T
ENST00000251654.8:c.1199-84A>T	ENSP00000251654.4:n.1199-84A>T
ENST00000462637.5:c.1130-84A>T	ENSP00000420391.1:n.1130-84A>T
ENST00000466072.5:c.1259-84A>T	ENSP00000420158.1:n.1259-84A>T
ENST00000468777.5:c.1292-84A>T	ENSP00000419129.1:n.1292-84A>T
ENST00000469217.5:c.1259-84A>T	ENSP00000419027.1:n.1259-84A>T
ENST00000471595.5:c.1199-84A>T	ENSP00000417549.1:n.1199-84A>T
ENST00000473073.1:n.1316A>T
ENST00000474833.5:n.823+161A>T
ENST00000475214.5:n.1273A>T
ENST00000478469.5:c.885-7209A>T	ENSP00000420759.1:n.885-7209A>T
ENST00000482086.5:c.851-84A>T	ENSP00000417253.1:n.851-84A>T
ENST00000483687.5:c.1142-84A>T	ENSP00000420639.1:n.1142-84A>T
ENST00000484181.5:c.1198+161A>T	ENSP00000417937.1:n.1198+161A>T
ENST00000490504.5:c.1028-84A>T	ENSP00000418307.1:n.1028-84A>T
NM_000532.4:c.1199-84A>T	NP_000523.2:n.1199-84A>T
NM_001178014.1:c.1259-84A>T	NP_001171485.1:n.1259-84A>T
NM_000532.5:c.1199-84A>T MANE Select	NP_000523.2:n.1199-84A>T
NM_001178014.2:c.1259-84A>T	NP_001171485.1:n.1259-84A>T