Canonical Allele Identifier: CA2574078179
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306093C>A , CM000663.2:g.161306093C>A GRCh38
NC_000001.10:g.161275883C>A , CM000663.1:g.161275883C>A GRCh37
NC_000001.9:g.159542507C>A NCBI36
NG_008055.1:g.8880G>T , LRG_256:g.8880G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.564+15G>T ENSP00000488104.2:n.564+15G>T
ENST00000533357.5:c.645+15G>T MANE Select ENSP00000432943.1:n.645+15G>T
ENST00000672287.2:c.57+15G>T ENSP00000499818.2:n.57+15G>T
ENST00000672602.2:c.645+15G>T ENSP00000500814.2:n.645+15G>T
ENST00000674861.1:n.708+15G>T
ENST00000463290.5:c.645+15G>T ENSP00000431538.1:n.645+15G>T
ENST00000476410.1:n.120G>T
ENST00000488271.1:n.83+15G>T
ENST00000491222.5:c.57+15G>T ENSP00000431441.1:n.57+15G>T
ENST00000526189.2:c.308+15G>T
ENST00000533357.4:c.645+15G>T ENSP00000432943.1:n.645+15G>T
NM_000530.6:c.645+15G>T , LRG_256t1:c.645+15G>T NP_000521.2:n.645+15G>T
NM_000530.7:c.645+15G>T NP_000521.2:n.645+15G>T
NM_001315491.1:c.645+15G>T NP_001302420.1:n.645+15G>T
XM_017001321.2:c.675+15G>T XP_016856810.1:n.675+15G>T
NM_000530.8:c.645+15G>T MANE Select NP_000521.2:n.645+15G>T
NM_001315491.2:c.645+15G>T NP_001302420.1:n.645+15G>T