Canonical Allele Identifier: CA123805
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 14188
ClinVar RCV Id: RCV000015252 RCV000436362 RCV000546842 RCV001173691
dbSNP Id: rs121913601
gnomAD v4: 1-161307259-G-A
MyVariant Identifiers: chr1:g.161277049G>A (hg19) chr1:g.161307259G>A (hg38)
PubMed: PMID:7527371 PMID:9187667 PMID:9633821 PMID:10093067 PMID:10965800 PMID:11437164 PMID:11835375 PMID:12497641
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161307259G>A , CM000663.2:g.161307259G>A GRCh38
NC_000001.10:g.161277049G>A , CM000663.1:g.161277049G>A GRCh37
NC_000001.9:g.159543673G>A NCBI36
NG_008055.1:g.7714C>T , LRG_256:g.7714C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.233C>T ENSP00000488104.2:p.Ser78Leu
ENST00000533357.5:c.233C>T MANE Select ENSP00000432943.1:p.Ser78Leu
ENST00000672287.2:c.-356C>T ENSP00000499818.2:n.-356C>T
ENST00000672602.2:c.233C>T ENSP00000500814.2:p.Ser78Leu
ENST00000674861.1:n.296C>T
ENST00000463290.5:c.233C>T ENSP00000431538.1:p.Ser78Leu
ENST00000491222.5:c.-356C>T ENSP00000431441.1:n.-356C>T
ENST00000533357.4:c.233C>T ENSP00000432943.1:p.Ser78Leu
NM_000530.6:c.233C>T , LRG_256t1:c.233C>T NP_000521.2:p.Ser78Leu
NM_000530.7:c.233C>T NP_000521.2:p.Ser78Leu
NM_001315491.1:c.233C>T NP_001302420.1:p.Ser78Leu
XM_017001321.2:c.263C>T XP_016856810.1:p.Ser88Leu
NM_000530.8:c.233C>T MANE Select NP_000521.2:p.Ser78Leu
NM_001315491.2:c.233C>T NP_001302420.1:p.Ser78Leu
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