Canonical Allele Identifier: CA354648778

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136326886G>T , CM000665.2:g.136326886G>T	GRCh38
NC_000003.11:g.136045728G>T , CM000665.1:g.136045728G>T	GRCh37
NC_000003.10:g.137528418G>T	NCBI36
NG_008939.1:g.81562G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1174G>T MANE Select	NP_000523.2:p.Val392Phe
ENST00000251654.9:c.1174G>T MANE Select	ENSP00000251654.4:p.Val392Phe
NM_000532.4:c.1174G>T	NP_000523.2:p.Val392Phe
NM_001178014.1:c.1234G>T	NP_001171485.1:p.Val412Phe
NM_001178014.2:c.1234G>T	NP_001171485.1:p.Val412Phe
ENST00000251654.8:c.1174G>T	ENSP00000251654.4:p.Val392Phe
ENST00000462637.5:c.1105G>T	ENSP00000420391.1:p.Val369Phe
ENST00000466072.5:c.1234G>T	ENSP00000420158.1:p.Val412Phe
ENST00000468777.5:c.1267G>T	ENSP00000419129.1:p.Val423Phe
ENST00000469217.5:c.1234G>T	ENSP00000419027.1:p.Val412Phe
ENST00000471595.5:c.1174G>T	ENSP00000417549.1:p.Val392Phe
ENST00000473073.1:n.1131G>T
ENST00000474833.5:n.799G>T
ENST00000475214.5:n.1088G>T
ENST00000478469.5:c.885-7394G>T	ENSP00000420759.1:n.885-7394G>T
ENST00000482086.5:c.826G>T	ENSP00000417253.1:p.Val276Phe
ENST00000483687.5:c.1117G>T	ENSP00000420639.1:p.Val373Phe
ENST00000484181.5:c.1174G>T	ENSP00000417937.1:p.Val392Phe
ENST00000490504.5:c.1003G>T	ENSP00000418307.1:p.Val335Phe