Canonical Allele Identifier: CA354739923

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.135980878T>C (hg19) ; chr3:g.136262036T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262036T>C , CM000665.2:g.136262036T>C	GRCh38
NC_000003.11:g.135980878T>C , CM000665.1:g.135980878T>C	GRCh37
NC_000003.10:g.137463568T>C	NCBI36
NG_008939.1:g.16712T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.514T>C MANE Select	ENSP00000251654.4:p.Ser172Pro
ENST00000251654.8:c.514T>C	ENSP00000251654.4:p.Ser172Pro
ENST00000459873.1:c.265T>C	ENSP00000419293.1:p.Ser89Pro
ENST00000462542.5:c.381T>C
ENST00000462637.5:c.445T>C	ENSP00000420391.1:p.Ser149Pro
ENST00000465176.5:n.476T>C
ENST00000466072.5:c.514T>C	ENSP00000420158.1:p.Ser172Pro
ENST00000468777.5:c.607T>C	ENSP00000419129.1:p.Ser203Pro
ENST00000469217.5:c.574T>C	ENSP00000419027.1:p.Ser192Pro
ENST00000471595.5:c.514T>C	ENSP00000417549.1:p.Ser172Pro
ENST00000473073.1:n.471T>C
ENST00000474833.5:n.168+11478T>C
ENST00000475214.5:n.428T>C
ENST00000478469.5:c.514T>C	ENSP00000420759.1:p.Ser172Pro
ENST00000482086.5:c.166T>C	ENSP00000417253.1:p.Ser56Pro
ENST00000483687.5:c.457T>C	ENSP00000420639.1:p.Ser153Pro
ENST00000484181.5:c.514T>C	ENSP00000417937.1:p.Ser172Pro
ENST00000490504.5:c.372+5413T>C	ENSP00000418307.1:n.372+5413T>C
NM_000532.4:c.514T>C	NP_000523.2:p.Ser172Pro
NM_001178014.1:c.574T>C	NP_001171485.1:p.Ser192Pro
XM_011512873.1:c.514T>C	XP_011511175.1:p.Ser172Pro
XM_011512873.2:c.514T>C	XP_011511175.1:p.Ser172Pro
NM_000532.5:c.514T>C MANE Select	NP_000523.2:p.Ser172Pro
NM_001178014.2:c.574T>C	NP_001171485.1:p.Ser192Pro