Canonical Allele Identifier: CA1143538423
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161305953C= , CM000663.2:g.161305953C= GRCh38
NC_000001.10:g.161275743C= , CM000663.1:g.161275743C= GRCh37
NC_000001.9:g.159542367C= NCBI36
NG_008055.1:g.9020G= , LRG_256:g.9020G=

Transcript Alleles

HGVS Amino-acid Change
NM_000530.8:c.670G= MANE Select NP_000521.2:p.Asp224=
ENST00000533357.5:c.670G= MANE Select ENSP00000432943.1:p.Asp224=
NM_000530.6:c.670G= , LRG_256t1:c.670G= NP_000521.2:p.Asp224=
NM_000530.7:c.670G= NP_000521.2:p.Asp224=
NM_001315491.1:c.670G= NP_001302420.1:p.Asp224=
NM_001315491.2:c.670G= NP_001302420.1:p.Asp224=
ENST00000463290.5:c.670G= ENSP00000431538.1:p.Asp224=
ENST00000476410.1:n.260G=
ENST00000488271.1:n.108G=
ENST00000491222.5:c.82G= ENSP00000431441.1:p.Asp28=
ENST00000526189.2:c.333G=
ENST00000526189.3:c.589G= ENSP00000488104.2:p.Asp197=
ENST00000533357.4:c.670G= ENSP00000432943.1:p.Asp224=
ENST00000672287.2:c.82G= ENSP00000499818.2:p.Asp28=
ENST00000672602.2:c.670G= ENSP00000500814.2:p.Asp224=
ENST00000674861.1:n.733G=
XM_017001321.2:c.675+155G= XP_016856810.1:n.675+155G=