Canonical Allele Identifier: CA2631943

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136301086A>G , CM000665.2:g.136301086A>G	GRCh38
NC_000003.11:g.136019928A>G , CM000665.1:g.136019928A>G	GRCh37
NC_000003.10:g.137502618A>G	NCBI36
NG_008939.1:g.55762A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.941A>G MANE Select	NP_000523.2:p.Tyr314Cys
ENST00000251654.9:c.941A>G MANE Select	ENSP00000251654.4:p.Tyr314Cys
NM_000532.4:c.941A>G	NP_000523.2:p.Tyr314Cys
NM_001178014.1:c.1001A>G	NP_001171485.1:p.Tyr334Cys
NM_001178014.2:c.1001A>G	NP_001171485.1:p.Tyr334Cys
ENST00000251654.8:c.941A>G	ENSP00000251654.4:p.Tyr314Cys
ENST00000462637.5:c.872A>G	ENSP00000420391.1:p.Tyr291Cys
ENST00000466072.5:c.941A>G	ENSP00000420158.1:p.Tyr314Cys
ENST00000468777.5:c.1034A>G	ENSP00000419129.1:p.Tyr345Cys
ENST00000469217.5:c.1001A>G	ENSP00000419027.1:p.Tyr334Cys
ENST00000471595.5:c.941A>G	ENSP00000417549.1:p.Tyr314Cys
ENST00000473073.1:n.898A>G
ENST00000474833.5:n.566A>G
ENST00000475214.5:n.855A>G
ENST00000478469.5:c.884+3014A>G	ENSP00000420759.1:n.884+3014A>G
ENST00000482086.5:c.593A>G	ENSP00000417253.1:p.Tyr198Cys
ENST00000483687.5:c.884A>G	ENSP00000420639.1:p.Tyr295Cys
ENST00000484181.5:c.941A>G	ENSP00000417937.1:p.Tyr314Cys
ENST00000490504.5:c.770A>G	ENSP00000418307.1:p.Tyr257Cys
XM_011512873.1:c.941A>G	XP_011511175.1:p.Tyr314Cys
XM_011512873.2:c.941A>G	XP_011511175.1:p.Tyr314Cys