Canonical Allele Identifier: CA354648985

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136046002G>C (hg19) ; chr3:g.136327160G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327160G>C , CM000665.2:g.136327160G>C	GRCh38
NC_000003.11:g.136046002G>C , CM000665.1:g.136046002G>C	GRCh37
NC_000003.10:g.137528692G>C	NCBI36
NG_008939.1:g.81836G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1204G>C MANE Select	ENSP00000251654.4:p.Ala402Pro
ENST00000251654.8:c.1204G>C	ENSP00000251654.4:p.Ala402Pro
ENST00000462637.5:c.1135G>C	ENSP00000420391.1:p.Ala379Pro
ENST00000466072.5:c.1264G>C	ENSP00000420158.1:p.Ala422Pro
ENST00000468777.5:c.1297G>C	ENSP00000419129.1:p.Ala433Pro
ENST00000469217.5:c.1264G>C	ENSP00000419027.1:p.Ala422Pro
ENST00000471595.5:c.1204G>C	ENSP00000417549.1:p.Ala402Pro
ENST00000473073.1:n.1405G>C
ENST00000474833.5:n.823+250G>C
ENST00000478469.5:c.885-7120G>C	ENSP00000420759.1:n.885-7120G>C
ENST00000482086.5:c.856G>C	ENSP00000417253.1:p.Ala286Pro
ENST00000483687.5:c.1147G>C	ENSP00000420639.1:p.Ala383Pro
ENST00000484181.5:c.1198+250G>C	ENSP00000417937.1:n.1198+250G>C
ENST00000490504.5:c.1033G>C	ENSP00000418307.1:p.Ala345Pro
NM_000532.4:c.1204G>C	NP_000523.2:p.Ala402Pro
NM_001178014.1:c.1264G>C	NP_001171485.1:p.Ala422Pro
NM_000532.5:c.1204G>C MANE Select	NP_000523.2:p.Ala402Pro
NM_001178014.2:c.1264G>C	NP_001171485.1:p.Ala422Pro