Canonical Allele Identifier: CA257148
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 14173
dbSNP Id: rs121913588

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306747C>T , CM000663.2:g.161306747C>T GRCh38
NC_000001.10:g.161276537C>T , CM000663.1:g.161276537C>T GRCh37
NC_000001.9:g.159543161C>T NCBI36
NG_008055.1:g.8226G>A , LRG_256:g.8226G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.367+42G>A ENSP00000488104.2:n.367+42G>A
ENST00000533357.5:c.409G>A MANE Select ENSP00000432943.1:p.Gly137Ser
ENST00000672287.2:c.-180G>A ENSP00000499818.2:n.-180G>A
ENST00000672602.2:c.409G>A ENSP00000500814.2:p.Gly137Ser
ENST00000674861.1:n.472G>A
ENST00000463290.5:c.409G>A ENSP00000431538.1:p.Gly137Ser
ENST00000491222.5:c.-180G>A ENSP00000431441.1:n.-180G>A
ENST00000526189.2:c.111+42G>A
ENST00000533357.4:c.409G>A ENSP00000432943.1:p.Gly137Ser
NM_000530.6:c.409G>A , LRG_256t1:c.409G>A NP_000521.2:p.Gly137Ser
NM_000530.7:c.409G>A NP_000521.2:p.Gly137Ser
NM_001315491.1:c.409G>A NP_001302420.1:p.Gly137Ser
XM_017001321.2:c.439G>A XP_016856810.1:p.Gly147Ser
NM_000530.8:c.409G>A MANE Select NP_000521.2:p.Gly137Ser
NM_001315491.2:c.409G>A NP_001302420.1:p.Gly137Ser