Canonical Allele Identifier: CA257142

Gene: MPZ

Linked Data

• ClinVar Variation Id: 14166
• ClinVar RCV Id: RCV000015229 ; RCV000812845 ; RCV000789440
• dbSNP Id: rs121913583
• MyVariant Identifiers: chr1:g.161276660T>C (hg19) ; chr1:g.161306870T>C (hg38)
• PubMed: PMID:7504284 ; PMID:7511317 ; PMID:7693129

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306870T>C , CM000663.2:g.161306870T>C	GRCh38
NC_000001.10:g.161276660T>C , CM000663.1:g.161276660T>C	GRCh37
NC_000001.9:g.159543284T>C	NCBI36
NG_008055.1:g.8103A>G , LRG_256:g.8103A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.286A>G	ENSP00000488104.2:p.Lys96Glu
ENST00000533357.5:c.286A>G MANE Select	ENSP00000432943.1:p.Lys96Glu
ENST00000672287.2:c.-303A>G	ENSP00000499818.2:n.-303A>G
ENST00000672602.2:c.286A>G	ENSP00000500814.2:p.Lys96Glu
ENST00000674861.1:n.349A>G
ENST00000463290.5:c.286A>G	ENSP00000431538.1:p.Lys96Glu
ENST00000491222.5:c.-303A>G	ENSP00000431441.1:n.-303A>G
ENST00000526189.2:c.30A>G
ENST00000533357.4:c.286A>G	ENSP00000432943.1:p.Lys96Glu
NM_000530.6:c.286A>G , LRG_256t1:c.286A>G	NP_000521.2:p.Lys96Glu
NM_000530.7:c.286A>G	NP_000521.2:p.Lys96Glu
NM_001315491.1:c.286A>G	NP_001302420.1:p.Lys96Glu
XM_017001321.2:c.316A>G	XP_016856810.1:p.Lys106Glu
NM_000530.8:c.286A>G MANE Select	NP_000521.2:p.Lys96Glu
NM_001315491.2:c.286A>G	NP_001302420.1:p.Lys96Glu