Canonical Allele Identifier: CA2580061339

Gene: MPZ

Linked Data

• ClinVar Variation Id: 1798896
• ClinVar RCV Id: RCV002435867 ; RCV003741319
• gnomAD v4: 1-161306854-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306855dup , CM000663.2:g.161306855dup	GRCh38
NC_000001.10:g.161276645dup , CM000663.1:g.161276645dup	GRCh37
NC_000001.9:g.159543269dup	NCBI36
NG_008055.1:g.8118dup , LRG_256:g.8118dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.301dup	ENSP00000488104.2:p.Trp101LeufsTer21
ENST00000533357.5:c.301dup MANE Select	ENSP00000432943.1:p.Trp101LeufsTer21
ENST00000672287.2:c.-288dup	ENSP00000499818.2:n.-288dup
ENST00000672602.2:c.301dup	ENSP00000500814.2:p.Trp101LeufsTer21
ENST00000674861.1:n.364dup
ENST00000463290.5:c.301dup	ENSP00000431538.1:p.Trp101LeufsTer21
ENST00000491222.5:c.-288dup	ENSP00000431441.1:n.-288dup
ENST00000526189.2:c.45dup
ENST00000533357.4:c.301dup	ENSP00000432943.1:p.Trp101LeufsTer21
NM_000530.6:c.301dup , LRG_256t1:c.301dup	NP_000521.2:p.Trp101LeufsTer21
NM_000530.7:c.301dup	NP_000521.2:p.Trp101LeufsTer21
NM_001315491.1:c.301dup	NP_001302420.1:p.Trp101LeufsTer21
XM_017001321.2:c.331dup	XP_016856810.1:p.Trp111LeufsTer21
NM_000530.8:c.301dup MANE Select	NP_000521.2:p.Trp101LeufsTer21
NM_001315491.2:c.301dup	NP_001302420.1:p.Trp101LeufsTer21