Canonical Allele Identifier: CA1210099
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 246572
dbSNP Id: rs202176679

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306116C>G , CM000663.2:g.161306116C>G GRCh38
NC_000001.10:g.161275906C>G , CM000663.1:g.161275906C>G GRCh37
NC_000001.9:g.159542530C>G NCBI36
NG_008055.1:g.8857G>C , LRG_256:g.8857G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.556G>C ENSP00000488104.2:p.Gly186Arg
ENST00000533357.5:c.637G>C MANE Select ENSP00000432943.1:p.Gly213Arg
ENST00000672287.2:c.49G>C ENSP00000499818.2:p.Gly17Arg
ENST00000672602.2:c.637G>C ENSP00000500814.2:p.Gly213Arg
ENST00000674861.1:n.700G>C
ENST00000463290.5:c.637G>C ENSP00000431538.1:p.Gly213Arg
ENST00000476410.1:n.97G>C
ENST00000488271.1:n.75G>C
ENST00000491222.5:c.49G>C ENSP00000431441.1:p.Gly17Arg
ENST00000526189.2:c.300G>C
ENST00000533357.4:c.637G>C ENSP00000432943.1:p.Gly213Arg
NM_000530.6:c.637G>C , LRG_256t1:c.637G>C NP_000521.2:p.Gly213Arg
NM_000530.7:c.637G>C NP_000521.2:p.Gly213Arg
NM_001315491.1:c.637G>C NP_001302420.1:p.Gly213Arg
XM_017001321.2:c.667G>C XP_016856810.1:p.Gly223Arg
NM_000530.8:c.637G>C MANE Select NP_000521.2:p.Gly213Arg
NM_001315491.2:c.637G>C NP_001302420.1:p.Gly213Arg