Canonical Allele Identifier: CA354649619

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136047634A>T (hg19) ; chr3:g.136328792A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136328792A>T , CM000665.2:g.136328792A>T	GRCh38
NC_000003.11:g.136047634A>T , CM000665.1:g.136047634A>T	GRCh37
NC_000003.10:g.137530324A>T	NCBI36
NG_008939.1:g.83468A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1433A>T MANE Select	ENSP00000251654.4:p.Asn478Ile
ENST00000251654.8:c.1433A>T	ENSP00000251654.4:p.Asn478Ile
ENST00000462637.5:c.1364A>T	ENSP00000420391.1:p.Asn455Ile
ENST00000466072.5:c.1493A>T	ENSP00000420158.1:p.Asn498Ile
ENST00000468777.5:c.1526A>T	ENSP00000419129.1:p.Asn509Ile
ENST00000469217.5:c.1493A>T	ENSP00000419027.1:p.Asn498Ile
ENST00000471595.5:c.1433A>T	ENSP00000417549.1:p.Asn478Ile
ENST00000473073.1:n.1634A>T
ENST00000478469.5:c.885-5488A>T	ENSP00000420759.1:n.885-5488A>T
ENST00000482086.5:c.1085A>T	ENSP00000417253.1:p.Asn362Ile
ENST00000483687.5:c.1376A>T	ENSP00000420639.1:p.Asn459Ile
ENST00000484181.5:c.*114A>T	ENSP00000417937.1:n.*114A>T
ENST00000490504.5:c.1262A>T	ENSP00000418307.1:p.Asn421Ile
NM_000532.4:c.1433A>T	NP_000523.2:p.Asn478Ile
NM_001178014.1:c.1493A>T	NP_001171485.1:p.Asn498Ile
NM_000532.5:c.1433A>T MANE Select	NP_000523.2:p.Asn478Ile
NM_001178014.2:c.1493A>T	NP_001171485.1:p.Asn498Ile