Canonical Allele Identifier: CA354649356

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327673C>T , CM000665.2:g.136327673C>T	GRCh38
NC_000003.11:g.136046515C>T , CM000665.1:g.136046515C>T	GRCh37
NC_000003.10:g.137529205C>T	NCBI36
NG_008939.1:g.82349C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1339C>T MANE Select	NP_000523.2:p.Leu447Phe
ENST00000251654.9:c.1339C>T MANE Select	ENSP00000251654.4:p.Leu447Phe
NM_000532.4:c.1339C>T	NP_000523.2:p.Leu447Phe
NM_001178014.1:c.1399C>T	NP_001171485.1:p.Leu467Phe
NM_001178014.2:c.1399C>T	NP_001171485.1:p.Leu467Phe
ENST00000251654.8:c.1339C>T	ENSP00000251654.4:p.Leu447Phe
ENST00000462637.5:c.1270C>T	ENSP00000420391.1:p.Leu424Phe
ENST00000466072.5:c.1399C>T	ENSP00000420158.1:p.Leu467Phe
ENST00000468777.5:c.1432C>T	ENSP00000419129.1:p.Leu478Phe
ENST00000469217.5:c.1399C>T	ENSP00000419027.1:p.Leu467Phe
ENST00000471595.5:c.1339C>T	ENSP00000417549.1:p.Leu447Phe
ENST00000473073.1:n.1540C>T
ENST00000474833.5:n.863C>T
ENST00000478469.5:c.885-6607C>T	ENSP00000420759.1:n.885-6607C>T
ENST00000482086.5:c.991C>T	ENSP00000417253.1:p.Leu331Phe
ENST00000483687.5:c.1282C>T	ENSP00000420639.1:p.Leu428Phe
ENST00000484181.5:c.*20C>T	ENSP00000417937.1:n.*20C>T
ENST00000490504.5:c.1168C>T	ENSP00000418307.1:p.Leu390Phe