Canonical Allele Identifier: CA354739880

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.135980864A>T (hg19) ; chr3:g.136262022A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262022A>T , CM000665.2:g.136262022A>T	GRCh38
NC_000003.11:g.135980864A>T , CM000665.1:g.135980864A>T	GRCh37
NC_000003.10:g.137463554A>T	NCBI36
NG_008939.1:g.16698A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.500A>T MANE Select	ENSP00000251654.4:p.Gln167Leu
ENST00000251654.8:c.500A>T	ENSP00000251654.4:p.Gln167Leu
ENST00000459873.1:c.251A>T	ENSP00000419293.1:p.Gln84Leu
ENST00000462542.5:c.367A>T
ENST00000462637.5:c.431A>T	ENSP00000420391.1:p.Gln144Leu
ENST00000465176.5:n.462A>T
ENST00000466072.5:c.500A>T	ENSP00000420158.1:p.Gln167Leu
ENST00000468777.5:c.593A>T	ENSP00000419129.1:p.Gln198Leu
ENST00000469217.5:c.560A>T	ENSP00000419027.1:p.Gln187Leu
ENST00000471595.5:c.500A>T	ENSP00000417549.1:p.Gln167Leu
ENST00000473073.1:n.457A>T
ENST00000474833.5:n.168+11464A>T
ENST00000475214.5:n.414A>T
ENST00000478469.5:c.500A>T	ENSP00000420759.1:p.Gln167Leu
ENST00000482086.5:c.152A>T	ENSP00000417253.1:p.Gln51Leu
ENST00000483687.5:c.443A>T	ENSP00000420639.1:p.Gln148Leu
ENST00000484181.5:c.500A>T	ENSP00000417937.1:p.Gln167Leu
ENST00000490504.5:c.372+5399A>T	ENSP00000418307.1:n.372+5399A>T
ENST00000494742.5:c.251A>T	ENSP00000418020.1:p.Gln84Leu
NM_000532.4:c.500A>T	NP_000523.2:p.Gln167Leu
NM_001178014.1:c.560A>T	NP_001171485.1:p.Gln187Leu
XM_011512873.1:c.500A>T	XP_011511175.1:p.Gln167Leu
XM_011512873.2:c.500A>T	XP_011511175.1:p.Gln167Leu
NM_000532.5:c.500A>T MANE Select	NP_000523.2:p.Gln167Leu
NM_001178014.2:c.560A>T	NP_001171485.1:p.Gln187Leu