Canonical Allele Identifier: CA343917
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 41027
dbSNP Id: rs281865131

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306107C>A , CM000663.2:g.161306107C>A GRCh38
NC_000001.10:g.161275897C>A , CM000663.1:g.161275897C>A GRCh37
NC_000001.9:g.159542521C>A NCBI36
NG_008055.1:g.8866G>T , LRG_256:g.8866G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000526189.3:c.564+1G>T ENSP00000488104.2:n.564+1G>T
ENST00000533357.5:c.645+1G>T MANE Select ENSP00000432943.1:n.645+1G>T
ENST00000672287.2:c.57+1G>T ENSP00000499818.2:n.57+1G>T
ENST00000672602.2:c.645+1G>T ENSP00000500814.2:n.645+1G>T
ENST00000674861.1:n.708+1G>T
ENST00000463290.5:c.645+1G>T ENSP00000431538.1:n.645+1G>T
ENST00000476410.1:n.106G>T
ENST00000488271.1:n.83+1G>T
ENST00000491222.5:c.57+1G>T ENSP00000431441.1:n.57+1G>T
ENST00000526189.2:c.308+1G>T
ENST00000533357.4:c.645+1G>T ENSP00000432943.1:n.645+1G>T
NM_000530.6:c.645+1G>T , LRG_256t1:c.645+1G>T NP_000521.2:n.645+1G>T
NM_000530.7:c.645+1G>T NP_000521.2:n.645+1G>T
NM_001315491.1:c.645+1G>T NP_001302420.1:n.645+1G>T
XM_017001321.2:c.675+1G>T XP_016856810.1:n.675+1G>T
NM_000530.8:c.645+1G>T MANE Select NP_000521.2:n.645+1G>T
NM_001315491.2:c.645+1G>T NP_001302420.1:n.645+1G>T