Canonical Allele Identifier: CA435841862
Gene: PCCB HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.136048799T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136329957T>C , CM000665.2:g.136329957T>C GRCh38
NC_000003.11:g.136048799T>C , CM000665.1:g.136048799T>C GRCh37
NC_000003.10:g.137531489T>C NCBI36
NG_008939.1:g.84633T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251654.9:c.1551T>C MANE Select ENSP00000251654.4:p.Cys517=
ENST00000251654.8:c.1551T>C ENSP00000251654.4:p.Cys517=
ENST00000462637.5:c.1482T>C ENSP00000420391.1:p.Cys494=
ENST00000466072.5:c.1611T>C ENSP00000420158.1:p.Cys537=
ENST00000468777.5:c.1644T>C ENSP00000419129.1:p.Cys548=
ENST00000469217.5:c.1611T>C ENSP00000419027.1:p.Cys537=
ENST00000471595.5:c.1551T>C ENSP00000417549.1:p.Cys517=
ENST00000473073.1:n.1752T>C
ENST00000478469.5:c.885-4323T>C ENSP00000420759.1:n.885-4323T>C
ENST00000482086.5:c.1203T>C ENSP00000417253.1:p.Cys401=
ENST00000483687.5:c.1494T>C ENSP00000420639.1:p.Cys498=
ENST00000484181.5:c.*232T>C ENSP00000417937.1:n.*232T>C
ENST00000490504.5:c.1380T>C ENSP00000418307.1:p.Cys460=
NM_000532.4:c.1551T>C NP_000523.2:p.Cys517=
NM_001178014.1:c.1611T>C NP_001171485.1:p.Cys537=
NM_000532.5:c.1551T>C MANE Select NP_000523.2:p.Cys517=
NM_001178014.2:c.1611T>C NP_001171485.1:p.Cys537=