Canonical Allele Identifier: CA354650113

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136048801A>T (hg19) ; chr3:g.136329959A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329959A>T , CM000665.2:g.136329959A>T	GRCh38
NC_000003.11:g.136048801A>T , CM000665.1:g.136048801A>T	GRCh37
NC_000003.10:g.137531491A>T	NCBI36
NG_008939.1:g.84635A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1553A>T MANE Select	ENSP00000251654.4:p.Asp518Val
ENST00000251654.8:c.1553A>T	ENSP00000251654.4:p.Asp518Val
ENST00000462637.5:c.1484A>T	ENSP00000420391.1:p.Asp495Val
ENST00000466072.5:c.1613A>T	ENSP00000420158.1:p.Asp538Val
ENST00000468777.5:c.1646A>T	ENSP00000419129.1:p.Asp549Val
ENST00000469217.5:c.1613A>T	ENSP00000419027.1:p.Asp538Val
ENST00000471595.5:c.1553A>T	ENSP00000417549.1:p.Asp518Val
ENST00000473073.1:n.1754A>T
ENST00000478469.5:c.885-4321A>T	ENSP00000420759.1:n.885-4321A>T
ENST00000482086.5:c.1205A>T	ENSP00000417253.1:p.Asp402Val
ENST00000483687.5:c.1496A>T	ENSP00000420639.1:p.Asp499Val
ENST00000484181.5:c.*234A>T	ENSP00000417937.1:n.*234A>T
ENST00000490504.5:c.1382A>T	ENSP00000418307.1:p.Asp461Val
NM_000532.4:c.1553A>T	NP_000523.2:p.Asp518Val
NM_001178014.1:c.1613A>T	NP_001171485.1:p.Asp538Val
NM_000532.5:c.1553A>T MANE Select	NP_000523.2:p.Asp518Val
NM_001178014.2:c.1613A>T	NP_001171485.1:p.Asp538Val