Canonical Allele Identifier: CA354740005

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.135980902T>C (hg19) ; chr3:g.136262060T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262060T>C , CM000665.2:g.136262060T>C	GRCh38
NC_000003.11:g.135980902T>C , CM000665.1:g.135980902T>C	GRCh37
NC_000003.10:g.137463592T>C	NCBI36
NG_008939.1:g.16736T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.538T>C MANE Select	ENSP00000251654.4:p.Phe180Leu
ENST00000251654.8:c.538T>C	ENSP00000251654.4:p.Phe180Leu
ENST00000459873.1:c.289T>C	ENSP00000419293.1:p.Phe97Leu
ENST00000462542.5:c.405T>C
ENST00000462637.5:c.469T>C	ENSP00000420391.1:p.Phe157Leu
ENST00000465176.5:n.500T>C
ENST00000466072.5:c.538T>C	ENSP00000420158.1:p.Phe180Leu
ENST00000468777.5:c.631T>C	ENSP00000419129.1:p.Phe211Leu
ENST00000469217.5:c.598T>C	ENSP00000419027.1:p.Phe200Leu
ENST00000471595.5:c.538T>C	ENSP00000417549.1:p.Phe180Leu
ENST00000473073.1:n.495T>C
ENST00000474833.5:n.168+11502T>C
ENST00000475214.5:n.452T>C
ENST00000478469.5:c.538T>C	ENSP00000420759.1:p.Phe180Leu
ENST00000482086.5:c.190T>C	ENSP00000417253.1:p.Phe64Leu
ENST00000483687.5:c.481T>C	ENSP00000420639.1:p.Phe161Leu
ENST00000484181.5:c.538T>C	ENSP00000417937.1:p.Phe180Leu
ENST00000490504.5:c.372+5437T>C	ENSP00000418307.1:n.372+5437T>C
NM_000532.4:c.538T>C	NP_000523.2:p.Phe180Leu
NM_001178014.1:c.598T>C	NP_001171485.1:p.Phe200Leu
XM_011512873.1:c.538T>C	XP_011511175.1:p.Phe180Leu
XM_011512873.2:c.538T>C	XP_011511175.1:p.Phe180Leu
NM_000532.5:c.538T>C MANE Select	NP_000523.2:p.Phe180Leu
NM_001178014.2:c.598T>C	NP_001171485.1:p.Phe200Leu