Canonical Allele Identifier: CA435957422

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.135980811A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261969A>C , CM000665.2:g.136261969A>C	GRCh38
NC_000003.11:g.135980811A>C , CM000665.1:g.135980811A>C	GRCh37
NC_000003.10:g.137463501A>C	NCBI36
NG_008939.1:g.16645A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.447A>C MANE Select	ENSP00000251654.4:p.Ile149=
ENST00000251654.8:c.447A>C	ENSP00000251654.4:p.Ile149=
ENST00000459873.1:c.198A>C	ENSP00000419293.1:p.Ile66=
ENST00000462542.5:c.314A>C
ENST00000462637.5:c.378A>C	ENSP00000420391.1:p.Ile126=
ENST00000465176.5:n.409A>C
ENST00000465423.5:c.534A>C	ENSP00000419263.1:p.Ile178=
ENST00000466072.5:c.447A>C	ENSP00000420158.1:p.Ile149=
ENST00000468777.5:c.540A>C	ENSP00000419129.1:p.Ile180=
ENST00000469217.5:c.507A>C	ENSP00000419027.1:p.Ile169=
ENST00000471595.5:c.447A>C	ENSP00000417549.1:p.Ile149=
ENST00000473073.1:n.404A>C
ENST00000474833.5:n.168+11411A>C
ENST00000475214.5:n.361A>C
ENST00000478469.5:c.447A>C	ENSP00000420759.1:p.Ile149=
ENST00000482086.5:c.99A>C	ENSP00000417253.1:p.Ile33=
ENST00000483687.5:c.390A>C	ENSP00000420639.1:p.Ile130=
ENST00000484181.5:c.447A>C	ENSP00000417937.1:p.Ile149=
ENST00000490504.5:c.372+5346A>C	ENSP00000418307.1:n.372+5346A>C
ENST00000494742.5:c.198A>C	ENSP00000418020.1:p.Ile66=
NM_000532.4:c.447A>C	NP_000523.2:p.Ile149=
NM_001178014.1:c.507A>C	NP_001171485.1:p.Ile169=
XM_011512873.1:c.447A>C	XP_011511175.1:p.Ile149=
XM_011512873.2:c.447A>C	XP_011511175.1:p.Ile149=
NM_000532.5:c.447A>C MANE Select	NP_000523.2:p.Ile149=
NM_001178014.2:c.507A>C	NP_001171485.1:p.Ile169=