Canonical Allele Identifier: CA354650098

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136048798G>T (hg19) ; chr3:g.136329956G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329956G>T , CM000665.2:g.136329956G>T	GRCh38
NC_000003.11:g.136048798G>T , CM000665.1:g.136048798G>T	GRCh37
NC_000003.10:g.137531488G>T	NCBI36
NG_008939.1:g.84632G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1550G>T MANE Select	ENSP00000251654.4:p.Cys517Phe
ENST00000251654.8:c.1550G>T	ENSP00000251654.4:p.Cys517Phe
ENST00000462637.5:c.1481G>T	ENSP00000420391.1:p.Cys494Phe
ENST00000466072.5:c.1610G>T	ENSP00000420158.1:p.Cys537Phe
ENST00000468777.5:c.1643G>T	ENSP00000419129.1:p.Cys548Phe
ENST00000469217.5:c.1610G>T	ENSP00000419027.1:p.Cys537Phe
ENST00000471595.5:c.1550G>T	ENSP00000417549.1:p.Cys517Phe
ENST00000473073.1:n.1751G>T
ENST00000478469.5:c.885-4324G>T	ENSP00000420759.1:n.885-4324G>T
ENST00000482086.5:c.1202G>T	ENSP00000417253.1:p.Cys401Phe
ENST00000483687.5:c.1493G>T	ENSP00000420639.1:p.Cys498Phe
ENST00000484181.5:c.*231G>T	ENSP00000417937.1:n.*231G>T
ENST00000490504.5:c.1379G>T	ENSP00000418307.1:p.Cys460Phe
NM_000532.4:c.1550G>T	NP_000523.2:p.Cys517Phe
NM_001178014.1:c.1610G>T	NP_001171485.1:p.Cys537Phe
NM_000532.5:c.1550G>T MANE Select	NP_000523.2:p.Cys517Phe
NM_001178014.2:c.1610G>T	NP_001171485.1:p.Cys537Phe