Canonical Allele Identifier: CA1202687670
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161305858C= , CM000663.2:g.161305858C= GRCh38
NC_000001.10:g.161275648C= , CM000663.1:g.161275648C= GRCh37
NC_000001.9:g.159542272C= NCBI36
NG_008055.1:g.9115G= , LRG_256:g.9115G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.*18G= ENSP00000488104.2:n.*18G=
ENST00000533357.5:c.*18G= MANE Select ENSP00000432943.1:n.*18G=
ENST00000672287.2:c.*18G= ENSP00000499818.2:n.*18G=
ENST00000672602.2:c.765G= ENSP00000500814.2:p.Ala255=
ENST00000674861.1:n.828G=
ENST00000463290.5:c.*18G= ENSP00000431538.1:n.*18G=
ENST00000476410.1:n.355G=
ENST00000488271.1:n.203G=
ENST00000491222.5:c.*18G= ENSP00000431441.1:n.*18G=
ENST00000526189.2:c.428G=
ENST00000533357.4:c.*18G= ENSP00000432943.1:n.*18G=
NM_000530.6:c.*18G= , LRG_256t1:c.*18G= NP_000521.2:n.*18G=
NM_000530.7:c.*18G= NP_000521.2:n.*18G=
NM_001315491.1:c.765G= NP_001302420.1:p.Ala255=
XM_017001321.2:c.675+250G= XP_016856810.1:n.675+250G=
NM_000530.8:c.*18G= MANE Select NP_000521.2:n.*18G=
NM_001315491.2:c.765G= NP_001302420.1:p.Ala255=