Canonical Allele Identifier: CA343344720
Gene: MPZ HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306127G>C , CM000663.2:g.161306127G>C GRCh38
NC_000001.10:g.161275917G>C , CM000663.1:g.161275917G>C GRCh37
NC_000001.9:g.159542541G>C NCBI36
NG_008055.1:g.8846C>G , LRG_256:g.8846C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.545C>G ENSP00000488104.2:p.Ala182Gly
ENST00000533357.5:c.626C>G MANE Select ENSP00000432943.1:p.Ala209Gly
ENST00000672287.2:c.38C>G ENSP00000499818.2:p.Ala13Gly
ENST00000672602.2:c.626C>G ENSP00000500814.2:p.Ala209Gly
ENST00000674861.1:n.689C>G
ENST00000463290.5:c.626C>G ENSP00000431538.1:p.Ala209Gly
ENST00000476410.1:n.86C>G
ENST00000488271.1:n.64C>G
ENST00000491222.5:c.38C>G ENSP00000431441.1:p.Ala13Gly
ENST00000526189.2:c.289C>G
ENST00000533357.4:c.626C>G ENSP00000432943.1:p.Ala209Gly
NM_000530.6:c.626C>G , LRG_256t1:c.626C>G NP_000521.2:p.Ala209Gly
NM_000530.7:c.626C>G NP_000521.2:p.Ala209Gly
NM_001315491.1:c.626C>G NP_001302420.1:p.Ala209Gly
XM_017001321.2:c.656C>G XP_016856810.1:p.Ala219Gly
NM_000530.8:c.626C>G MANE Select NP_000521.2:p.Ala209Gly
NM_001315491.2:c.626C>G NP_001302420.1:p.Ala209Gly