Canonical Allele Identifier: CA1202687876
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161305944T= , CM000663.2:g.161305944T= GRCh38
NC_000001.10:g.161275734T= , CM000663.1:g.161275734T= GRCh37
NC_000001.9:g.159542358T= NCBI36
NG_008055.1:g.9029A= , LRG_256:g.9029A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.598A= ENSP00000488104.2:p.Arg200=
ENST00000533357.5:c.679A= MANE Select ENSP00000432943.1:p.Arg227=
ENST00000672287.2:c.91A= ENSP00000499818.2:p.Arg31=
ENST00000672602.2:c.679A= ENSP00000500814.2:p.Arg227=
ENST00000674861.1:n.742A=
ENST00000463290.5:c.679A= ENSP00000431538.1:p.Arg227=
ENST00000476410.1:n.269A=
ENST00000488271.1:n.117A=
ENST00000491222.5:c.91A= ENSP00000431441.1:p.Arg31=
ENST00000526189.2:c.342A=
ENST00000533357.4:c.679A= ENSP00000432943.1:p.Arg227=
NM_000530.6:c.679A= , LRG_256t1:c.679A= NP_000521.2:p.Arg227=
NM_000530.7:c.679A= NP_000521.2:p.Arg227=
NM_001315491.1:c.679A= NP_001302420.1:p.Arg227=
XM_017001321.2:c.675+164A= XP_016856810.1:n.675+164A=
NM_000530.8:c.679A= MANE Select NP_000521.2:p.Arg227=
NM_001315491.2:c.679A= NP_001302420.1:p.Arg227=