Canonical Allele Identifier: CA354649599

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136047625G>C (hg19) ; chr3:g.136328783G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136328783G>C , CM000665.2:g.136328783G>C	GRCh38
NC_000003.11:g.136047625G>C , CM000665.1:g.136047625G>C	GRCh37
NC_000003.10:g.137530315G>C	NCBI36
NG_008939.1:g.83459G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1424G>C MANE Select	ENSP00000251654.4:p.Gly475Ala
ENST00000251654.8:c.1424G>C	ENSP00000251654.4:p.Gly475Ala
ENST00000462637.5:c.1355G>C	ENSP00000420391.1:p.Gly452Ala
ENST00000466072.5:c.1484G>C	ENSP00000420158.1:p.Gly495Ala
ENST00000468777.5:c.1517G>C	ENSP00000419129.1:p.Gly506Ala
ENST00000469217.5:c.1484G>C	ENSP00000419027.1:p.Gly495Ala
ENST00000471595.5:c.1424G>C	ENSP00000417549.1:p.Gly475Ala
ENST00000473073.1:n.1625G>C
ENST00000478469.5:c.885-5497G>C	ENSP00000420759.1:n.885-5497G>C
ENST00000482086.5:c.1076G>C	ENSP00000417253.1:p.Gly359Ala
ENST00000483687.5:c.1367G>C	ENSP00000420639.1:p.Gly456Ala
ENST00000484181.5:c.*105G>C	ENSP00000417937.1:n.*105G>C
ENST00000490504.5:c.1253G>C	ENSP00000418307.1:p.Gly418Ala
NM_000532.4:c.1424G>C	NP_000523.2:p.Gly475Ala
NM_001178014.1:c.1484G>C	NP_001171485.1:p.Gly495Ala
NM_000532.5:c.1424G>C MANE Select	NP_000523.2:p.Gly475Ala
NM_001178014.2:c.1484G>C	NP_001171485.1:p.Gly495Ala