Canonical Allele Identifier: CA257146
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 14172
dbSNP Id: rs121913587

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306752A>G , CM000663.2:g.161306752A>G GRCh38
NC_000001.10:g.161276542A>G , CM000663.1:g.161276542A>G GRCh37
NC_000001.9:g.159543166A>G NCBI36
NG_008055.1:g.8221T>C , LRG_256:g.8221T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000526189.3:c.367+37T>C ENSP00000488104.2:n.367+37T>C
ENST00000533357.5:c.404T>C MANE Select ENSP00000432943.1:p.Ile135Thr
ENST00000672287.2:c.-185T>C ENSP00000499818.2:n.-185T>C
ENST00000672602.2:c.404T>C ENSP00000500814.2:p.Ile135Thr
ENST00000674861.1:n.467T>C
ENST00000463290.5:c.404T>C ENSP00000431538.1:p.Ile135Thr
ENST00000491222.5:c.-185T>C ENSP00000431441.1:n.-185T>C
ENST00000526189.2:c.111+37T>C
ENST00000533357.4:c.404T>C ENSP00000432943.1:p.Ile135Thr
NM_000530.6:c.404T>C , LRG_256t1:c.404T>C NP_000521.2:p.Ile135Thr
NM_000530.7:c.404T>C NP_000521.2:p.Ile135Thr
NM_001315491.1:c.404T>C NP_001302420.1:p.Ile135Thr
XM_017001321.2:c.434T>C XP_016856810.1:p.Ile145Thr
NM_000530.8:c.404T>C MANE Select NP_000521.2:p.Ile135Thr
NM_001315491.2:c.404T>C NP_001302420.1:p.Ile135Thr