Canonical Allele Identifier: CA257172
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 14195
ClinVar RCV Id: RCV000015259 RCV001851868
dbSNP Id: rs121913606
MyVariant Identifiers: chr1:g.161276656T>A (hg19) chr1:g.161306866T>A (hg38)
PubMed: PMID:15326256
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306866T>A , CM000663.2:g.161306866T>A GRCh38
NC_000001.10:g.161276656T>A , CM000663.1:g.161276656T>A GRCh37
NC_000001.9:g.159543280T>A NCBI36
NG_008055.1:g.8107A>T , LRG_256:g.8107A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000526189.3:c.290A>T ENSP00000488104.2:p.Glu97Val
ENST00000533357.5:c.290A>T MANE Select ENSP00000432943.1:p.Glu97Val
ENST00000672287.2:c.-299A>T ENSP00000499818.2:n.-299A>T
ENST00000672602.2:c.290A>T ENSP00000500814.2:p.Glu97Val
ENST00000674861.1:n.353A>T
ENST00000463290.5:c.290A>T ENSP00000431538.1:p.Glu97Val
ENST00000491222.5:c.-299A>T ENSP00000431441.1:n.-299A>T
ENST00000526189.2:c.34A>T
ENST00000533357.4:c.290A>T ENSP00000432943.1:p.Glu97Val
NM_000530.6:c.290A>T , LRG_256t1:c.290A>T NP_000521.2:p.Glu97Val
NM_000530.7:c.290A>T NP_000521.2:p.Glu97Val
NM_001315491.1:c.290A>T NP_001302420.1:p.Glu97Val
XM_017001321.2:c.320A>T XP_016856810.1:p.Glu107Val
NM_000530.8:c.290A>T MANE Select NP_000521.2:p.Glu97Val
NM_001315491.2:c.290A>T NP_001302420.1:p.Glu97Val
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