Canonical Allele Identifier: CA343349847
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 531681
ClinVar RCV Id: RCV000638158
dbSNP Id: rs1553259700

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306893T>C , CM000663.2:g.161306893T>C GRCh38
NC_000001.10:g.161276683T>C , CM000663.1:g.161276683T>C GRCh37
NC_000001.9:g.159543307T>C NCBI36
NG_008055.1:g.8080A>G , LRG_256:g.8080A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.263A>G ENSP00000488104.2:p.Tyr88Cys
ENST00000533357.5:c.263A>G MANE Select ENSP00000432943.1:p.Tyr88Cys
ENST00000672287.2:c.-326A>G ENSP00000499818.2:n.-326A>G
ENST00000672602.2:c.263A>G ENSP00000500814.2:p.Tyr88Cys
ENST00000674861.1:n.326A>G
ENST00000463290.5:c.263A>G ENSP00000431538.1:p.Tyr88Cys
ENST00000491222.5:c.-326A>G ENSP00000431441.1:n.-326A>G
ENST00000526189.2:c.7A>G
ENST00000533357.4:c.263A>G ENSP00000432943.1:p.Tyr88Cys
NM_000530.6:c.263A>G , LRG_256t1:c.263A>G NP_000521.2:p.Tyr88Cys
NM_000530.7:c.263A>G NP_000521.2:p.Tyr88Cys
NM_001315491.1:c.263A>G NP_001302420.1:p.Tyr88Cys
XM_017001321.2:c.293A>G XP_016856810.1:p.Tyr98Cys
NM_000530.8:c.263A>G MANE Select NP_000521.2:p.Tyr88Cys
NM_001315491.2:c.263A>G NP_001302420.1:p.Tyr88Cys