Canonical Allele Identifier: CA2779755740

Gene: PLPBP

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765582dup , CM000670.2:g.37765582dup	GRCh38
NC_000008.10:g.37623100dup , CM000670.1:g.37623100dup	GRCh37
NC_000008.9:g.37742258dup	NCBI36
NG_053030.1:g.8830dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.156dup MANE Select	ENSP00000333551.3:p.Met53HisfsTer?
ENST00000328195.7:c.156dup	ENSP00000333551.3:p.Met53HisfsTer?
ENST00000518036.5:c.156dup	ENSP00000428005.1:p.Met53HisfsTer?
ENST00000520073.5:n.221dup
ENST00000523187.5:c.-1dup	ENSP00000427886.1:p.Met1HisfsTer?
ENST00000523358.5:c.156dup	ENSP00000427778.1:p.Met53HisfsTer?
ENST00000523994.1:n.161dup
NM_007198.3:c.156dup	NP_009129.1:p.Met53HisfsTer?
NM_001349346.1:c.156dup	NP_001336275.1:p.Met53HisfsTer?
NM_001349347.1:c.156dup	NP_001336276.1:p.Met53HisfsTer?
NM_001349348.1:c.-1dup	NP_001336277.1:p.Met1HisfsTer?
NM_001349349.1:c.261dup	NP_001336278.1:p.Met88HisfsTer?
NM_007198.4:c.156dup MANE Select	NP_009129.1:p.Met53HisfsTer?
NM_001349346.2:c.156dup	NP_001336275.1:p.Met53HisfsTer?
NM_001349347.2:c.156dup	NP_001336276.1:p.Met53HisfsTer?
NM_001349348.2:c.-1dup	NP_001336277.1:p.Met1HisfsTer?