Canonical Allele Identifier: CA915943854

Gene: MPZ

Linked Data

• ClinVar Variation Id: 637484
• ClinVar RCV Id: RCV000789684
• dbSNP Id: rs1571817455

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306106dup , CM000663.2:g.161306106dup	GRCh38
NC_000001.10:g.161275896dup , CM000663.1:g.161275896dup	GRCh37
NC_000001.9:g.159542520dup	NCBI36
NG_008055.1:g.8868dup , LRG_256:g.8868dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.564+3dup	ENSP00000488104.2:n.564+3dup
ENST00000533357.5:c.645+3dup MANE Select	ENSP00000432943.1:n.645+3dup
ENST00000672287.2:c.57+3dup	ENSP00000499818.2:n.57+3dup
ENST00000672602.2:c.645+3dup	ENSP00000500814.2:n.645+3dup
ENST00000674861.1:n.708+3dup
ENST00000463290.5:c.645+3dup	ENSP00000431538.1:n.645+3dup
ENST00000476410.1:n.108dup
ENST00000488271.1:n.83+3dup
ENST00000491222.5:c.57+3dup	ENSP00000431441.1:n.57+3dup
ENST00000526189.2:c.308+3dup
ENST00000533357.4:c.645+3dup	ENSP00000432943.1:n.645+3dup
NM_000530.6:c.645+3dup , LRG_256t1:c.645+3dup	NP_000521.2:n.645+3dup
NM_000530.7:c.645+3dup	NP_000521.2:n.645+3dup
NM_001315491.1:c.645+3dup	NP_001302420.1:n.645+3dup
XM_017001321.2:c.675+3dup	XP_016856810.1:n.675+3dup
NM_000530.8:c.645+3dup MANE Select	NP_000521.2:n.645+3dup
NM_001315491.2:c.645+3dup	NP_001302420.1:n.645+3dup