Canonical Allele Identifier: CA257142
Gene: MPZ HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14166
ClinVar RCV Id: RCV000015229
dbSNP Id: rs121913583

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306870T>C , CM000663.2:g.161306870T>C GRCh38
NC_000001.10:g.161276660T>C , CM000663.1:g.161276660T>C GRCh37
NC_000001.9:g.159543284T>C NCBI36
NG_008055.1:g.8103A>G , LRG_256:g.8103A>G

Transcript Alleles

HGVS Amino-acid change
NM_000530.6:c.286A>G , LRG_256t1:c.286A>G NP_000521.2:p.Lys96Glu
NM_000530.7:c.286A>G VV NP_000521.2:p.Lys96Glu
NM_001315491.1:c.286A>G VV NP_001302420.1:p.Lys96Glu
XM_017001321.2:c.316A>G XP_016856810.1:p.Lys106Glu
NM_000530.8:c.286A>G VV MANE Preferred NP_000521.2:p.Lys96Glu
ENST00000463290.5:c.286A>G ENSP00000431538.1:p.Lys96Glu
ENST00000491222.5:c.-303A>G ENSP00000431441.1:p.=
ENST00000526189.2:n.30A>G
ENST00000533357.4:c.286A>G ENSP00000432943.1:p.Lys96Glu