Canonical Allele Identifier: CA343348497
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 531698
dbSNP Id: rs863224449

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306737G>A , CM000663.2:g.161306737G>A GRCh38
NC_000001.10:g.161276527G>A , CM000663.1:g.161276527G>A GRCh37
NC_000001.9:g.159543151G>A NCBI36
NG_008055.1:g.8236C>T , LRG_256:g.8236C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.367+52C>T ENSP00000488104.2:n.367+52C>T
ENST00000533357.5:c.419C>T MANE Select ENSP00000432943.1:p.Ser140Phe
ENST00000672287.2:c.-170C>T ENSP00000499818.2:n.-170C>T
ENST00000672602.2:c.419C>T ENSP00000500814.2:p.Ser140Phe
ENST00000674861.1:n.482C>T
ENST00000463290.5:c.419C>T ENSP00000431538.1:p.Ser140Phe
ENST00000491222.5:c.-170C>T ENSP00000431441.1:n.-170C>T
ENST00000526189.2:c.111+52C>T
ENST00000533357.4:c.419C>T ENSP00000432943.1:p.Ser140Phe
NM_000530.6:c.419C>T , LRG_256t1:c.419C>T NP_000521.2:p.Ser140Phe
NM_000530.7:c.419C>T NP_000521.2:p.Ser140Phe
NM_001315491.1:c.419C>T NP_001302420.1:p.Ser140Phe
XM_017001321.2:c.449C>T XP_016856810.1:p.Ser150Phe
NM_000530.8:c.419C>T MANE Select NP_000521.2:p.Ser140Phe
NM_001315491.2:c.419C>T NP_001302420.1:p.Ser140Phe