Canonical Allele Identifier: CA354648532

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136326839G>T , CM000665.2:g.136326839G>T	GRCh38
NC_000003.11:g.136045681G>T , CM000665.1:g.136045681G>T	GRCh37
NC_000003.10:g.137528371G>T	NCBI36
NG_008939.1:g.81515G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1127G>T MANE Select	NP_000523.2:p.Arg376Leu
ENST00000251654.9:c.1127G>T MANE Select	ENSP00000251654.4:p.Arg376Leu
NM_000532.4:c.1127G>T	NP_000523.2:p.Arg376Leu
NM_001178014.1:c.1187G>T	NP_001171485.1:p.Arg396Leu
NM_001178014.2:c.1187G>T	NP_001171485.1:p.Arg396Leu
ENST00000251654.8:c.1127G>T	ENSP00000251654.4:p.Arg376Leu
ENST00000462637.5:c.1058G>T	ENSP00000420391.1:p.Arg353Leu
ENST00000466072.5:c.1187G>T	ENSP00000420158.1:p.Arg396Leu
ENST00000468777.5:c.1220G>T	ENSP00000419129.1:p.Arg407Leu
ENST00000469217.5:c.1187G>T	ENSP00000419027.1:p.Arg396Leu
ENST00000471595.5:c.1127G>T	ENSP00000417549.1:p.Arg376Leu
ENST00000473073.1:n.1084G>T
ENST00000474833.5:n.752G>T
ENST00000475214.5:n.1041G>T
ENST00000478469.5:c.885-7441G>T	ENSP00000420759.1:n.885-7441G>T
ENST00000482086.5:c.779G>T	ENSP00000417253.1:p.Arg260Leu
ENST00000483687.5:c.1070G>T	ENSP00000420639.1:p.Arg357Leu
ENST00000484181.5:c.1127G>T	ENSP00000417937.1:p.Arg376Leu
ENST00000490504.5:c.956G>T	ENSP00000418307.1:p.Arg319Leu