Canonical Allele Identifier: CA354739416

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136260533A>T , CM000665.2:g.136260533A>T	GRCh38
NC_000003.11:g.135979375A>T , CM000665.1:g.135979375A>T	GRCh37
NC_000003.10:g.137462065A>T	NCBI36
NG_008939.1:g.15209A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.427A>T MANE Select	NP_000523.2:p.Lys143Ter
ENST00000251654.9:c.427A>T MANE Select	ENSP00000251654.4:p.Lys143Ter
NM_000532.4:c.427A>T	NP_000523.2:p.Lys143Ter
NM_001178014.1:c.487A>T	NP_001171485.1:p.Lys163Ter
NM_001178014.2:c.487A>T	NP_001171485.1:p.Lys163Ter
ENST00000251654.8:c.427A>T	ENSP00000251654.4:p.Lys143Ter
ENST00000459873.1:c.178A>T	ENSP00000419293.1:p.Lys60Ter
ENST00000462542.5:c.294A>T
ENST00000462637.5:c.358A>T	ENSP00000420391.1:p.Lys120Ter
ENST00000465176.5:n.389A>T
ENST00000465423.5:c.514A>T	ENSP00000419263.1:p.Lys172Ter
ENST00000466072.5:c.427A>T	ENSP00000420158.1:p.Lys143Ter
ENST00000468777.5:c.520A>T	ENSP00000419129.1:p.Lys174Ter
ENST00000469217.5:c.487A>T	ENSP00000419027.1:p.Lys163Ter
ENST00000471595.5:c.427A>T	ENSP00000417549.1:p.Lys143Ter
ENST00000473073.1:n.384A>T
ENST00000474833.5:n.168+9975A>T
ENST00000475214.5:n.341A>T
ENST00000478469.5:c.427A>T	ENSP00000420759.1:p.Lys143Ter
ENST00000482086.5:c.94-1431A>T	ENSP00000417253.1:n.94-1431A>T
ENST00000483687.5:c.373-1419A>T	ENSP00000420639.1:n.373-1419A>T
ENST00000484181.5:c.427A>T	ENSP00000417937.1:p.Lys143Ter
ENST00000490504.5:c.372+3910A>T	ENSP00000418307.1:n.372+3910A>T
ENST00000494742.5:c.178A>T	ENSP00000418020.1:p.Lys60Ter
XM_011512873.1:c.427A>T	XP_011511175.1:p.Lys143Ter
XM_011512873.2:c.427A>T	XP_011511175.1:p.Lys143Ter