Canonical Allele Identifier: CA343897
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 41017
ClinVar RCV Id: RCV001699102 RCV003335061 RCV003444056 RCV003886367
dbSNP Id: rs281865124
MyVariant Identifiers: chr1:g.161276702A>G (hg19) chr1:g.161306912A>G (hg38)
PubMed: PMID:20301384
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306912A>G , CM000663.2:g.161306912A>G GRCh38
NC_000001.10:g.161276702A>G , CM000663.1:g.161276702A>G GRCh37
NC_000001.9:g.159543326A>G NCBI36
NG_008055.1:g.8061T>C , LRG_256:g.8061T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000526189.3:c.244T>C ENSP00000488104.2:p.Tyr82His
ENST00000533357.5:c.244T>C MANE Select ENSP00000432943.1:p.Tyr82His
ENST00000672287.2:c.-345T>C ENSP00000499818.2:n.-345T>C
ENST00000672602.2:c.244T>C ENSP00000500814.2:p.Tyr82His
ENST00000674861.1:n.307T>C
ENST00000463290.5:c.244T>C ENSP00000431538.1:p.Tyr82His
ENST00000491222.5:c.-345T>C ENSP00000431441.1:n.-345T>C
ENST00000533357.4:c.244T>C ENSP00000432943.1:p.Tyr82His
NM_000530.6:c.244T>C , LRG_256t1:c.244T>C NP_000521.2:p.Tyr82His
NM_000530.7:c.244T>C NP_000521.2:p.Tyr82His
NM_001315491.1:c.244T>C NP_001302420.1:p.Tyr82His
XM_017001321.2:c.274T>C XP_016856810.1:p.Tyr92His
NM_000530.8:c.244T>C MANE Select NP_000521.2:p.Tyr82His
NM_001315491.2:c.244T>C NP_001302420.1:p.Tyr82His
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