Canonical Allele Identifier: CA354650117

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136048802C>G (hg19) ; chr3:g.136329960C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329960C>G , CM000665.2:g.136329960C>G	GRCh38
NC_000003.11:g.136048802C>G , CM000665.1:g.136048802C>G	GRCh37
NC_000003.10:g.137531492C>G	NCBI36
NG_008939.1:g.84636C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1554C>G MANE Select	ENSP00000251654.4:p.Asp518Glu
ENST00000251654.8:c.1554C>G	ENSP00000251654.4:p.Asp518Glu
ENST00000462637.5:c.1485C>G	ENSP00000420391.1:p.Asp495Glu
ENST00000466072.5:c.1614C>G	ENSP00000420158.1:p.Asp538Glu
ENST00000468777.5:c.1647C>G	ENSP00000419129.1:p.Asp549Glu
ENST00000469217.5:c.1614C>G	ENSP00000419027.1:p.Asp538Glu
ENST00000471595.5:c.1554C>G	ENSP00000417549.1:p.Asp518Glu
ENST00000473073.1:n.1755C>G
ENST00000478469.5:c.885-4320C>G	ENSP00000420759.1:n.885-4320C>G
ENST00000482086.5:c.1206C>G	ENSP00000417253.1:p.Asp402Glu
ENST00000483687.5:c.1497C>G	ENSP00000420639.1:p.Asp499Glu
ENST00000484181.5:c.*235C>G	ENSP00000417937.1:n.*235C>G
ENST00000490504.5:c.1383C>G	ENSP00000418307.1:p.Asp461Glu
NM_000532.4:c.1554C>G	NP_000523.2:p.Asp518Glu
NM_001178014.1:c.1614C>G	NP_001171485.1:p.Asp538Glu
NM_000532.5:c.1554C>G MANE Select	NP_000523.2:p.Asp518Glu
NM_001178014.2:c.1614C>G	NP_001171485.1:p.Asp538Glu