Canonical Allele Identifier: CA257144

Gene: MPZ

Linked Data

• ClinVar Variation Id: 14167
• ClinVar RCV Id: RCV000704216 ; RCV000789441 ; RCV000015230
• dbSNP Id: rs121913584
• MyVariant Identifiers: chr1:g.161276676G>T (hg19) ; chr1:g.161306886G>T (hg38)
• PubMed: PMID:7693129 ; PMID:25694466

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306886G>T , CM000663.2:g.161306886G>T	GRCh38
NC_000001.10:g.161276676G>T , CM000663.1:g.161276676G>T	GRCh37
NC_000001.9:g.159543300G>T	NCBI36
NG_008055.1:g.8087C>A , LRG_256:g.8087C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.270C>A	ENSP00000488104.2:p.Asp90Glu
ENST00000533357.5:c.270C>A MANE Select	ENSP00000432943.1:p.Asp90Glu
ENST00000672287.2:c.-319C>A	ENSP00000499818.2:n.-319C>A
ENST00000672602.2:c.270C>A	ENSP00000500814.2:p.Asp90Glu
ENST00000674861.1:n.333C>A
ENST00000463290.5:c.270C>A	ENSP00000431538.1:p.Asp90Glu
ENST00000491222.5:c.-319C>A	ENSP00000431441.1:n.-319C>A
ENST00000526189.2:c.14C>A
ENST00000533357.4:c.270C>A	ENSP00000432943.1:p.Asp90Glu
NM_000530.6:c.270C>A , LRG_256t1:c.270C>A	NP_000521.2:p.Asp90Glu
NM_000530.7:c.270C>A	NP_000521.2:p.Asp90Glu
NM_001315491.1:c.270C>A	NP_001302420.1:p.Asp90Glu
XM_017001321.2:c.300C>A	XP_016856810.1:p.Asp100Glu
NM_000530.8:c.270C>A MANE Select	NP_000521.2:p.Asp90Glu
NM_001315491.2:c.270C>A	NP_001302420.1:p.Asp90Glu