Canonical Allele Identifier: CA354737809
Community Standard Title: NM_000532.5(PCCB):c.2T>G (p.Met1Arg)
Gene: PCCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136250377T>G , CM000665.2:g.136250377T>G GRCh38
NC_000003.11:g.135969219T>G , CM000665.1:g.135969219T>G GRCh37
NC_000003.10:g.137451909T>G NCBI36
NG_008939.1:g.5053T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000532.5:c.2T>G MANE Select NP_000523.2:p.Met1Arg
ENST00000251654.9:c.2T>G MANE Select ENSP00000251654.4:p.Met1Arg
NM_000532.4:c.2T>G NP_000523.2:p.Met1Arg
NM_001178014.1:c.2T>G NP_001171485.1:p.Met1Arg
NM_001178014.2:c.2T>G NP_001171485.1:p.Met1Arg
ENST00000251654.8:c.2T>G ENSP00000251654.4:p.Met1Arg
ENST00000462637.5:c.2T>G ENSP00000420391.1:p.Met1Arg
ENST00000465423.5:c.2T>G ENSP00000419263.1:p.Met1Arg
ENST00000466072.5:c.2T>G ENSP00000420158.1:p.Met1Arg
ENST00000468777.5:c.2T>G ENSP00000419129.1:p.Met1Arg
ENST00000469217.5:c.2T>G ENSP00000419027.1:p.Met1Arg
ENST00000471595.5:c.2T>G ENSP00000417549.1:p.Met1Arg
ENST00000478469.5:c.2T>G ENSP00000420759.1:p.Met1Arg
ENST00000482086.5:c.2T>G ENSP00000417253.1:p.Met1Arg
ENST00000483687.5:c.2T>G ENSP00000420639.1:p.Met1Arg
ENST00000484181.5:c.2T>G ENSP00000417937.1:p.Met1Arg
ENST00000490504.5:c.2T>G ENSP00000418307.1:p.Met1Arg
XM_011512873.1:c.2T>G XP_011511175.1:p.Met1Arg
XM_011512873.2:c.2T>G XP_011511175.1:p.Met1Arg