Canonical Allele Identifier: CA2632091

Gene: PCCB

Linked Data

• ClinVar Variation Id: 2170720
• ClinVar RCV Id: RCV003080679 ; RCV003088678
• dbSNP Id: rs371610471
• ExAC: 3:136046000 C / T
• gnomAD v2: 3-136046000-C-T
• gnomAD v3: 3-136327158-C-T
• gnomAD v4: 3-136327158-C-T
• MyVariant Identifiers: chr3:g.136046000C>T (hg19) ; chr3:g.136327158C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327158C>T , CM000665.2:g.136327158C>T	GRCh38
NC_000003.11:g.136046000C>T , CM000665.1:g.136046000C>T	GRCh37
NC_000003.10:g.137528690C>T	NCBI36
NG_008939.1:g.81834C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1202C>T MANE Select	ENSP00000251654.4:p.Thr401Ile
ENST00000251654.8:c.1202C>T	ENSP00000251654.4:p.Thr401Ile
ENST00000462637.5:c.1133C>T	ENSP00000420391.1:p.Thr378Ile
ENST00000466072.5:c.1262C>T	ENSP00000420158.1:p.Thr421Ile
ENST00000468777.5:c.1295C>T	ENSP00000419129.1:p.Thr432Ile
ENST00000469217.5:c.1262C>T	ENSP00000419027.1:p.Thr421Ile
ENST00000471595.5:c.1202C>T	ENSP00000417549.1:p.Thr401Ile
ENST00000473073.1:n.1403C>T
ENST00000474833.5:n.823+248C>T
ENST00000478469.5:c.885-7122C>T	ENSP00000420759.1:n.885-7122C>T
ENST00000482086.5:c.854C>T	ENSP00000417253.1:p.Thr285Ile
ENST00000483687.5:c.1145C>T	ENSP00000420639.1:p.Thr382Ile
ENST00000484181.5:c.1198+248C>T	ENSP00000417937.1:n.1198+248C>T
ENST00000490504.5:c.1031C>T	ENSP00000418307.1:p.Thr344Ile
NM_000532.4:c.1202C>T	NP_000523.2:p.Thr401Ile
NM_001178014.1:c.1262C>T	NP_001171485.1:p.Thr421Ile
NM_000532.5:c.1202C>T MANE Select	NP_000523.2:p.Thr401Ile
NM_001178014.2:c.1262C>T	NP_001171485.1:p.Thr421Ile