Canonical Allele Identifier: CA257160
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 14184
ClinVar RCV Id: RCV000015248 RCV000190346 RCV001070451
dbSNP Id: rs121913597
MyVariant Identifiers: chr1:g.161277058T>A (hg19) chr1:g.161307268T>A (hg38)
PubMed: PMID:11080237 PMID:20301384 PMID:20301462
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161307268T>A , CM000663.2:g.161307268T>A GRCh38
NC_000001.10:g.161277058T>A , CM000663.1:g.161277058T>A GRCh37
NC_000001.9:g.159543682T>A NCBI36
NG_008055.1:g.7705A>T , LRG_256:g.7705A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000526189.3:c.224A>T ENSP00000488104.2:p.Asp75Val
ENST00000533357.5:c.224A>T MANE Select ENSP00000432943.1:p.Asp75Val
ENST00000672287.2:c.-365A>T ENSP00000499818.2:n.-365A>T
ENST00000672602.2:c.224A>T ENSP00000500814.2:p.Asp75Val
ENST00000674861.1:n.287A>T
ENST00000463290.5:c.224A>T ENSP00000431538.1:p.Asp75Val
ENST00000491222.5:c.-365A>T ENSP00000431441.1:n.-365A>T
ENST00000533357.4:c.224A>T ENSP00000432943.1:p.Asp75Val
NM_000530.6:c.224A>T , LRG_256t1:c.224A>T NP_000521.2:p.Asp75Val
NM_000530.7:c.224A>T NP_000521.2:p.Asp75Val
NM_001315491.1:c.224A>T NP_001302420.1:p.Asp75Val
XM_017001321.2:c.254A>T XP_016856810.1:p.Asp85Val
NM_000530.8:c.224A>T MANE Select NP_000521.2:p.Asp75Val
NM_001315491.2:c.224A>T NP_001302420.1:p.Asp75Val
Search 100 bp 5'
Search 100 bp 3'