Canonical Allele Identifier: CA257164
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 14187
ClinVar RCV Id: RCV000015251 RCV000536804
dbSNP Id: rs121913600
MyVariant Identifiers: chr1:g.161276638C>T (hg19) chr1:g.161306848C>T (hg38)
PubMed: PMID:11445635
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306848C>T , CM000663.2:g.161306848C>T GRCh38
NC_000001.10:g.161276638C>T , CM000663.1:g.161276638C>T GRCh37
NC_000001.9:g.159543262C>T NCBI36
NG_008055.1:g.8125G>A , LRG_256:g.8125G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000526189.3:c.308G>A ENSP00000488104.2:p.Gly103Glu
ENST00000533357.5:c.308G>A MANE Select ENSP00000432943.1:p.Gly103Glu
ENST00000672287.2:c.-281G>A ENSP00000499818.2:n.-281G>A
ENST00000672602.2:c.308G>A ENSP00000500814.2:p.Gly103Glu
ENST00000674861.1:n.371G>A
ENST00000463290.5:c.308G>A ENSP00000431538.1:p.Gly103Glu
ENST00000491222.5:c.-281G>A ENSP00000431441.1:n.-281G>A
ENST00000526189.2:c.52G>A
ENST00000533357.4:c.308G>A ENSP00000432943.1:p.Gly103Glu
NM_000530.6:c.308G>A , LRG_256t1:c.308G>A NP_000521.2:p.Gly103Glu
NM_000530.7:c.308G>A NP_000521.2:p.Gly103Glu
NM_001315491.1:c.308G>A NP_001302420.1:p.Gly103Glu
XM_017001321.2:c.338G>A XP_016856810.1:p.Gly113Glu
NM_000530.8:c.308G>A MANE Select NP_000521.2:p.Gly103Glu
NM_001315491.2:c.308G>A NP_001302420.1:p.Gly103Glu
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