Canonical Allele Identifier: CA658795556

Gene: MPZ

Linked Data

• ClinVar Variation Id: 531696
• ClinVar RCV Id: RCV000638179
• dbSNP Id: rs1553259646
• MyVariant Identifiers: chr1:g.161276539_161276541del (hg19) ; chr1:g.161306749_161306751del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306750_161306752del , CM000663.2:g.161306750_161306752del	GRCh38
NC_000001.10:g.161276540_161276542del , CM000663.1:g.161276540_161276542del	GRCh37
NC_000001.9:g.159543164_159543166del	NCBI36
NG_008055.1:g.8222_8224del , LRG_256:g.8222_8224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.367+38_367+40del	ENSP00000488104.2:n.367+38_367+40del
ENST00000533357.5:c.405_407del MANE Select	ENSP00000432943.1:p.Ile135_Val136delinsMet
ENST00000672287.2:c.-184_-182del	ENSP00000499818.2:n.-184_-182del
ENST00000672602.2:c.405_407del	ENSP00000500814.2:p.Ile135_Val136delinsMet
ENST00000674861.1:n.468_470del
ENST00000463290.5:c.405_407del	ENSP00000431538.1:p.Ile135_Val136delinsMet
ENST00000491222.5:c.-184_-182del	ENSP00000431441.1:n.-184_-182del
ENST00000526189.2:c.111+38_111+40del
ENST00000533357.4:c.405_407del	ENSP00000432943.1:p.Ile135_Val136delinsMet
NM_000530.6:c.405_407del , LRG_256t1:c.405_407del	NP_000521.2:p.Ile135_Val136delinsMet
NM_000530.7:c.405_407del	NP_000521.2:p.Ile135_Val136delinsMet
NM_001315491.1:c.405_407del	NP_001302420.1:p.Ile135_Val136delinsMet
XM_017001321.2:c.435_437del	XP_016856810.1:p.Ile145_Val146delinsMet
NM_000530.8:c.405_407del MANE Select	NP_000521.2:p.Ile135_Val136delinsMet
NM_001315491.2:c.405_407del	NP_001302420.1:p.Ile135_Val136delinsMet