Canonical Allele Identifier: CA343894
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 41016
ClinVar RCV Id: RCV000033913 RCV000789424
dbSNP Id: rs281865123
MyVariant Identifiers: chr1:g.161276705G>A (hg19) chr1:g.161306915G>A (hg38)
PubMed: PMID:20301384
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306915G>A , CM000663.2:g.161306915G>A GRCh38
NC_000001.10:g.161276705G>A , CM000663.1:g.161276705G>A GRCh37
NC_000001.9:g.159543329G>A NCBI36
NG_008055.1:g.8058C>T , LRG_256:g.8058C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000526189.3:c.241C>T ENSP00000488104.2:p.His81Tyr
ENST00000533357.5:c.241C>T MANE Select ENSP00000432943.1:p.His81Tyr
ENST00000672287.2:c.-348C>T ENSP00000499818.2:n.-348C>T
ENST00000672602.2:c.241C>T ENSP00000500814.2:p.His81Tyr
ENST00000674861.1:n.304C>T
ENST00000463290.5:c.241C>T ENSP00000431538.1:p.His81Tyr
ENST00000491222.5:c.-348C>T ENSP00000431441.1:n.-348C>T
ENST00000533357.4:c.241C>T ENSP00000432943.1:p.His81Tyr
NM_000530.6:c.241C>T , LRG_256t1:c.241C>T NP_000521.2:p.His81Tyr
NM_000530.7:c.241C>T NP_000521.2:p.His81Tyr
NM_001315491.1:c.241C>T NP_001302420.1:p.His81Tyr
XM_017001321.2:c.271C>T XP_016856810.1:p.His91Tyr
NM_000530.8:c.241C>T MANE Select NP_000521.2:p.His81Tyr
NM_001315491.2:c.241C>T NP_001302420.1:p.His81Tyr
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