Canonical Allele Identifier: CA354641903

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136283907T>A , CM000665.2:g.136283907T>A	GRCh38
NC_000003.11:g.136002749T>A , CM000665.1:g.136002749T>A	GRCh37
NC_000003.10:g.137485439T>A	NCBI36
NG_008939.1:g.38583T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.614T>A MANE Select	NP_000523.2:p.Val205Asp
ENST00000251654.9:c.614T>A MANE Select	ENSP00000251654.4:p.Val205Asp
NM_000532.4:c.614T>A	NP_000523.2:p.Val205Asp
NM_001178014.1:c.674T>A	NP_001171485.1:p.Val225Asp
NM_001178014.2:c.674T>A	NP_001171485.1:p.Val225Asp
ENST00000251654.8:c.614T>A	ENSP00000251654.4:p.Val205Asp
ENST00000459873.1:c.365T>A	ENSP00000419293.1:p.Val122Asp
ENST00000462542.5:c.481T>A
ENST00000462637.5:c.545T>A	ENSP00000420391.1:p.Val182Asp
ENST00000466072.5:c.614T>A	ENSP00000420158.1:p.Val205Asp
ENST00000468777.5:c.707T>A	ENSP00000419129.1:p.Val236Asp
ENST00000469217.5:c.674T>A	ENSP00000419027.1:p.Val225Asp
ENST00000471595.5:c.614T>A	ENSP00000417549.1:p.Val205Asp
ENST00000473073.1:n.571T>A
ENST00000474833.5:n.239T>A
ENST00000475214.5:n.528T>A
ENST00000478469.5:c.614T>A	ENSP00000420759.1:p.Val205Asp
ENST00000482086.5:c.266T>A	ENSP00000417253.1:p.Val89Asp
ENST00000483687.5:c.557T>A	ENSP00000420639.1:p.Val186Asp
ENST00000484181.5:c.614T>A	ENSP00000417937.1:p.Val205Asp
ENST00000490504.5:c.443T>A	ENSP00000418307.1:p.Val148Asp
XM_011512873.1:c.614T>A	XP_011511175.1:p.Val205Asp
XM_011512873.2:c.614T>A	XP_011511175.1:p.Val205Asp