Canonical Allele Identifier: CA354649114

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327190G>A , CM000665.2:g.136327190G>A	GRCh38
NC_000003.11:g.136046032G>A , CM000665.1:g.136046032G>A	GRCh37
NC_000003.10:g.137528722G>A	NCBI36
NG_008939.1:g.81866G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1234G>A MANE Select	NP_000523.2:p.Gly412Ser
ENST00000251654.9:c.1234G>A MANE Select	ENSP00000251654.4:p.Gly412Ser
NM_000532.4:c.1234G>A	NP_000523.2:p.Gly412Ser
NM_001178014.1:c.1294G>A	NP_001171485.1:p.Gly432Ser
NM_001178014.2:c.1294G>A	NP_001171485.1:p.Gly432Ser
ENST00000251654.8:c.1234G>A	ENSP00000251654.4:p.Gly412Ser
ENST00000462637.5:c.1165G>A	ENSP00000420391.1:p.Gly389Ser
ENST00000466072.5:c.1294G>A	ENSP00000420158.1:p.Gly432Ser
ENST00000468777.5:c.1327G>A	ENSP00000419129.1:p.Gly443Ser
ENST00000469217.5:c.1294G>A	ENSP00000419027.1:p.Gly432Ser
ENST00000471595.5:c.1234G>A	ENSP00000417549.1:p.Gly412Ser
ENST00000473073.1:n.1435G>A
ENST00000474833.5:n.823+280G>A
ENST00000478469.5:c.885-7090G>A	ENSP00000420759.1:n.885-7090G>A
ENST00000482086.5:c.886G>A	ENSP00000417253.1:p.Gly296Ser
ENST00000483687.5:c.1177G>A	ENSP00000420639.1:p.Gly393Ser
ENST00000484181.5:c.1198+280G>A	ENSP00000417937.1:n.1198+280G>A
ENST00000490504.5:c.1063G>A	ENSP00000418307.1:p.Gly355Ser