Canonical Allele Identifier: CA1202688207
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306108C= , CM000663.2:g.161306108C= GRCh38
NC_000001.10:g.161275898C= , CM000663.1:g.161275898C= GRCh37
NC_000001.9:g.159542522C= NCBI36
NG_008055.1:g.8865G= , LRG_256:g.8865G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.564G= ENSP00000488104.2:p.Gln188=
ENST00000533357.5:c.645G= MANE Select ENSP00000432943.1:p.Gln215=
ENST00000672287.2:c.57G= ENSP00000499818.2:p.Gln19=
ENST00000672602.2:c.645G= ENSP00000500814.2:p.Gln215=
ENST00000674861.1:n.708G=
ENST00000463290.5:c.645G= ENSP00000431538.1:p.Gln215=
ENST00000476410.1:n.105G=
ENST00000488271.1:n.83G=
ENST00000491222.5:c.57G= ENSP00000431441.1:p.Gln19=
ENST00000526189.2:c.308G=
ENST00000533357.4:c.645G= ENSP00000432943.1:p.Gln215=
NM_000530.6:c.645G= , LRG_256t1:c.645G= NP_000521.2:p.Gln215=
NM_000530.7:c.645G= NP_000521.2:p.Gln215=
NM_001315491.1:c.645G= NP_001302420.1:p.Gln215=
XM_017001321.2:c.675G= XP_016856810.1:p.Gln225=
NM_000530.8:c.645G= MANE Select NP_000521.2:p.Gln215=
NM_001315491.2:c.645G= NP_001302420.1:p.Gln215=