Canonical Allele Identifier: CA2580061342

Gene: MPZ

Linked Data

• ClinVar Variation Id: 2202877
• ClinVar RCV Id: RCV002648217

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306894_161306899dup , CM000663.2:g.161306894_161306899dup	GRCh38
NC_000001.10:g.161276684_161276689dup , CM000663.1:g.161276684_161276689dup	GRCh37
NC_000001.9:g.159543308_159543313dup	NCBI36
NG_008055.1:g.8075_8080dup , LRG_256:g.8075_8080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.258_263dup	ENSP00000488104.2:p.Tyr88Ter
ENST00000533357.5:c.258_263dup MANE Select	ENSP00000432943.1:p.Tyr88Ter
ENST00000672287.2:c.-331_-326dup	ENSP00000499818.2:n.-331_-326dup
ENST00000672602.2:c.258_263dup	ENSP00000500814.2:p.Tyr88Ter
ENST00000674861.1:n.321_326dup
ENST00000463290.5:c.258_263dup	ENSP00000431538.1:p.Tyr88Ter
ENST00000491222.5:c.-331_-326dup	ENSP00000431441.1:n.-331_-326dup
ENST00000526189.2:c.2_7dup
ENST00000533357.4:c.258_263dup	ENSP00000432943.1:p.Tyr88Ter
NM_000530.6:c.258_263dup , LRG_256t1:c.258_263dup	NP_000521.2:p.Tyr88Ter
NM_000530.7:c.258_263dup	NP_000521.2:p.Tyr88Ter
NM_001315491.1:c.258_263dup	NP_001302420.1:p.Tyr88Ter
XM_017001321.2:c.288_293dup	XP_016856810.1:p.Tyr98Ter
NM_000530.8:c.258_263dup MANE Select	NP_000521.2:p.Tyr88Ter
NM_001315491.2:c.258_263dup	NP_001302420.1:p.Tyr88Ter