Canonical Allele Identifier: CA1202688235
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306124G= , CM000663.2:g.161306124G= GRCh38
NC_000001.10:g.161275914G= , CM000663.1:g.161275914G= GRCh37
NC_000001.9:g.159542538G= NCBI36
NG_008055.1:g.8849C= , LRG_256:g.8849C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.548C= ENSP00000488104.2:p.Ser183=
ENST00000533357.5:c.629C= MANE Select ENSP00000432943.1:p.Ser210=
ENST00000672287.2:c.41C= ENSP00000499818.2:p.Ser14=
ENST00000672602.2:c.629C= ENSP00000500814.2:p.Ser210=
ENST00000674861.1:n.692C=
ENST00000463290.5:c.629C= ENSP00000431538.1:p.Ser210=
ENST00000476410.1:n.89C=
ENST00000488271.1:n.67C=
ENST00000491222.5:c.41C= ENSP00000431441.1:p.Ser14=
ENST00000526189.2:c.292C=
ENST00000533357.4:c.629C= ENSP00000432943.1:p.Ser210=
NM_000530.6:c.629C= , LRG_256t1:c.629C= NP_000521.2:p.Ser210=
NM_000530.7:c.629C= NP_000521.2:p.Ser210=
NM_001315491.1:c.629C= NP_001302420.1:p.Ser210=
XM_017001321.2:c.659C= XP_016856810.1:p.Ser220=
NM_000530.8:c.629C= MANE Select NP_000521.2:p.Ser210=
NM_001315491.2:c.629C= NP_001302420.1:p.Ser210=