Canonical Allele Identifier: CA2580061345

Gene: MPZ

Linked Data

• ClinVar Variation Id: 1780739
• ClinVar RCV Id: RCV002410332

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307311dup , CM000663.2:g.161307311dup	GRCh38
NC_000001.10:g.161277101dup , CM000663.1:g.161277101dup	GRCh37
NC_000001.9:g.159543725dup	NCBI36
NG_008055.1:g.7662dup , LRG_256:g.7662dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.181dup	ENSP00000488104.2:p.Asp61GlyfsTer30
ENST00000533357.5:c.181dup MANE Select	ENSP00000432943.1:p.Asp61GlyfsTer30
ENST00000672287.2:c.-408dup	ENSP00000499818.2:n.-408dup
ENST00000672602.2:c.181dup	ENSP00000500814.2:p.Asp61GlyfsTer30
ENST00000674861.1:n.244dup
ENST00000463290.5:c.181dup	ENSP00000431538.1:p.Asp61GlyfsTer30
ENST00000491222.5:c.-408dup	ENSP00000431441.1:n.-408dup
ENST00000533357.4:c.181dup	ENSP00000432943.1:p.Asp61GlyfsTer30
NM_000530.6:c.181dup , LRG_256t1:c.181dup	NP_000521.2:p.Asp61GlyfsTer30
NM_000530.7:c.181dup	NP_000521.2:p.Asp61GlyfsTer30
NM_001315491.1:c.181dup	NP_001302420.1:p.Asp61GlyfsTer30
XM_017001321.2:c.211dup	XP_016856810.1:p.Asp71GlyfsTer30
NM_000530.8:c.181dup MANE Select	NP_000521.2:p.Asp61GlyfsTer30
NM_001315491.2:c.181dup	NP_001302420.1:p.Asp61GlyfsTer30