Canonical Allele Identifier: CA435841849

Gene: PCCB

Linked Data

• ClinVar Variation Id: 1157012
• ClinVar RCV Id: RCV001499900
• dbSNP Id: rs1337219671
• MyVariant Identifiers: chr3:g.136048790A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329948A>C , CM000665.2:g.136329948A>C	GRCh38
NC_000003.11:g.136048790A>C , CM000665.1:g.136048790A>C	GRCh37
NC_000003.10:g.137531480A>C	NCBI36
NG_008939.1:g.84624A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1542A>C MANE Select	ENSP00000251654.4:p.Arg514=
ENST00000251654.8:c.1542A>C	ENSP00000251654.4:p.Arg514=
ENST00000462637.5:c.1473A>C	ENSP00000420391.1:p.Arg491=
ENST00000466072.5:c.1602A>C	ENSP00000420158.1:p.Arg534=
ENST00000468777.5:c.1635A>C	ENSP00000419129.1:p.Arg545=
ENST00000469217.5:c.1602A>C	ENSP00000419027.1:p.Arg534=
ENST00000471595.5:c.1542A>C	ENSP00000417549.1:p.Arg514=
ENST00000473073.1:n.1743A>C
ENST00000478469.5:c.885-4332A>C	ENSP00000420759.1:n.885-4332A>C
ENST00000482086.5:c.1194A>C	ENSP00000417253.1:p.Arg398=
ENST00000483687.5:c.1485A>C	ENSP00000420639.1:p.Arg495=
ENST00000484181.5:c.*223A>C	ENSP00000417937.1:n.*223A>C
ENST00000490504.5:c.1371A>C	ENSP00000418307.1:p.Arg457=
NM_000532.4:c.1542A>C	NP_000523.2:p.Arg514=
NM_001178014.1:c.1602A>C	NP_001171485.1:p.Arg534=
NM_000532.5:c.1542A>C MANE Select	NP_000523.2:p.Arg514=
NM_001178014.2:c.1602A>C	NP_001171485.1:p.Arg534=