Canonical Allele Identifier: CA354648972

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136045997G>C (hg19) ; chr3:g.136327155G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327155G>C , CM000665.2:g.136327155G>C	GRCh38
NC_000003.11:g.136045997G>C , CM000665.1:g.136045997G>C	GRCh37
NC_000003.10:g.137528687G>C	NCBI36
NG_008939.1:g.81831G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1199G>C MANE Select	ENSP00000251654.4:p.Gly400Ala
ENST00000251654.8:c.1199G>C	ENSP00000251654.4:p.Gly400Ala
ENST00000462637.5:c.1130G>C	ENSP00000420391.1:p.Gly377Ala
ENST00000466072.5:c.1259G>C	ENSP00000420158.1:p.Gly420Ala
ENST00000468777.5:c.1292G>C	ENSP00000419129.1:p.Gly431Ala
ENST00000469217.5:c.1259G>C	ENSP00000419027.1:p.Gly420Ala
ENST00000471595.5:c.1199G>C	ENSP00000417549.1:p.Gly400Ala
ENST00000473073.1:n.1400G>C
ENST00000474833.5:n.823+245G>C
ENST00000478469.5:c.885-7125G>C	ENSP00000420759.1:n.885-7125G>C
ENST00000482086.5:c.851G>C	ENSP00000417253.1:p.Gly284Ala
ENST00000483687.5:c.1142G>C	ENSP00000420639.1:p.Gly381Ala
ENST00000484181.5:c.1198+245G>C	ENSP00000417937.1:n.1198+245G>C
ENST00000490504.5:c.1028G>C	ENSP00000418307.1:p.Gly343Ala
NM_000532.4:c.1199G>C	NP_000523.2:p.Gly400Ala
NM_001178014.1:c.1259G>C	NP_001171485.1:p.Gly420Ala
NM_000532.5:c.1199G>C MANE Select	NP_000523.2:p.Gly400Ala
NM_001178014.2:c.1259G>C	NP_001171485.1:p.Gly420Ala