Canonical Allele Identifier: CA1143538441
Community Standard Title: NM_000530.8(MPZ):c.175T= (p.Ser59=)
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161307317A= , CM000663.2:g.161307317A= GRCh38
NC_000001.10:g.161277107A= , CM000663.1:g.161277107A= GRCh37
NC_000001.9:g.159543731A= NCBI36
NG_008055.1:g.7656T= , LRG_256:g.7656T=

Transcript Alleles

HGVS Amino-acid Change
NM_000530.8:c.175T= MANE Select NP_000521.2:p.Ser59=
ENST00000533357.5:c.175T= MANE Select ENSP00000432943.1:p.Ser59=
NM_000530.6:c.175T= , LRG_256t1:c.175T= NP_000521.2:p.Ser59=
NM_000530.7:c.175T= NP_000521.2:p.Ser59=
NM_001315491.1:c.175T= NP_001302420.1:p.Ser59=
NM_001315491.2:c.175T= NP_001302420.1:p.Ser59=
ENST00000463290.5:c.175T= ENSP00000431538.1:p.Ser59=
ENST00000491222.5:c.-414T= ENSP00000431441.1:n.-414T=
ENST00000526189.3:c.175T= ENSP00000488104.2:p.Ser59=
ENST00000533357.4:c.175T= ENSP00000432943.1:p.Ser59=
ENST00000672287.2:c.-414T= ENSP00000499818.2:n.-414T=
ENST00000672602.2:c.175T= ENSP00000500814.2:p.Ser59=
ENST00000674861.1:n.238T=
XM_017001321.2:c.205T= XP_016856810.1:p.Ser69=