Canonical Allele Identifier: CA1140512852
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161305939G= , CM000663.2:g.161305939G= GRCh38
NC_000001.10:g.161275729G= , CM000663.1:g.161275729G= GRCh37
NC_000001.9:g.159542353G= NCBI36
NG_008055.1:g.9034C= , LRG_256:g.9034C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.603C= ENSP00000488104.2:p.Ser201=
ENST00000533357.5:c.684C= MANE Select ENSP00000432943.1:p.Ser228=
ENST00000672287.2:c.96C= ENSP00000499818.2:p.Ser32=
ENST00000672602.2:c.684C= ENSP00000500814.2:p.Ser228=
ENST00000674861.1:n.747C=
ENST00000463290.5:c.684C= ENSP00000431538.1:p.Ser228=
ENST00000476410.1:n.274C=
ENST00000488271.1:n.122C=
ENST00000491222.5:c.96C= ENSP00000431441.1:p.Ser32=
ENST00000526189.2:c.347C=
ENST00000533357.4:c.684C= ENSP00000432943.1:p.Ser228=
NM_000530.6:c.684C= , LRG_256t1:c.684C= NP_000521.2:p.Ser228=
NM_000530.7:c.684C= NP_000521.2:p.Ser228=
NM_001315491.1:c.684C= NP_001302420.1:p.Ser228=
XM_017001321.2:c.675+169C= XP_016856810.1:n.675+169C=
NM_000530.8:c.684C= MANE Select NP_000521.2:p.Ser228=
NM_001315491.2:c.684C= NP_001302420.1:p.Ser228=