Canonical Allele Identifier: CA354739656

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.135980846C>T (hg19) ; chr3:g.136262004C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262004C>T , CM000665.2:g.136262004C>T	GRCh38
NC_000003.11:g.135980846C>T , CM000665.1:g.135980846C>T	GRCh37
NC_000003.10:g.137463536C>T	NCBI36
NG_008939.1:g.16680C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.482C>T MANE Select	ENSP00000251654.4:p.Ser161Phe
ENST00000251654.8:c.482C>T	ENSP00000251654.4:p.Ser161Phe
ENST00000459873.1:c.233C>T	ENSP00000419293.1:p.Ser78Phe
ENST00000462542.5:c.349C>T
ENST00000462637.5:c.413C>T	ENSP00000420391.1:p.Ser138Phe
ENST00000465176.5:n.444C>T
ENST00000465423.5:c.569C>T	ENSP00000419263.1:p.Ser190Phe
ENST00000466072.5:c.482C>T	ENSP00000420158.1:p.Ser161Phe
ENST00000468777.5:c.575C>T	ENSP00000419129.1:p.Ser192Phe
ENST00000469217.5:c.542C>T	ENSP00000419027.1:p.Ser181Phe
ENST00000471595.5:c.482C>T	ENSP00000417549.1:p.Ser161Phe
ENST00000473073.1:n.439C>T
ENST00000474833.5:n.168+11446C>T
ENST00000475214.5:n.396C>T
ENST00000478469.5:c.482C>T	ENSP00000420759.1:p.Ser161Phe
ENST00000482086.5:c.134C>T	ENSP00000417253.1:p.Ser45Phe
ENST00000483687.5:c.425C>T	ENSP00000420639.1:p.Ser142Phe
ENST00000484181.5:c.482C>T	ENSP00000417937.1:p.Ser161Phe
ENST00000490504.5:c.372+5381C>T	ENSP00000418307.1:n.372+5381C>T
ENST00000494742.5:c.233C>T	ENSP00000418020.1:p.Ser78Phe
NM_000532.4:c.482C>T	NP_000523.2:p.Ser161Phe
NM_001178014.1:c.542C>T	NP_001171485.1:p.Ser181Phe
XM_011512873.1:c.482C>T	XP_011511175.1:p.Ser161Phe
XM_011512873.2:c.482C>T	XP_011511175.1:p.Ser161Phe
NM_000532.5:c.482C>T MANE Select	NP_000523.2:p.Ser161Phe
NM_001178014.2:c.542C>T	NP_001171485.1:p.Ser181Phe