Canonical Allele Identifier: CA1202687726
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161305882C= , CM000663.2:g.161305882C= GRCh38
NC_000001.10:g.161275672C= , CM000663.1:g.161275672C= GRCh37
NC_000001.9:g.159542296C= NCBI36
NG_008055.1:g.9091G= , LRG_256:g.9091G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.660G= ENSP00000488104.2:p.Lys220=
ENST00000533357.5:c.741G= MANE Select ENSP00000432943.1:p.Lys247=
ENST00000672287.2:c.153G= ENSP00000499818.2:p.Lys51=
ENST00000672602.2:c.741G= ENSP00000500814.2:p.Lys247=
ENST00000674861.1:n.804G=
ENST00000463290.5:c.741G= ENSP00000431538.1:p.Lys247=
ENST00000476410.1:n.331G=
ENST00000488271.1:n.179G=
ENST00000491222.5:c.153G= ENSP00000431441.1:p.Lys51=
ENST00000526189.2:c.404G=
ENST00000533357.4:c.741G= ENSP00000432943.1:p.Lys247=
NM_000530.6:c.741G= , LRG_256t1:c.741G= NP_000521.2:p.Lys247=
NM_000530.7:c.741G= NP_000521.2:p.Lys247=
NM_001315491.1:c.741G= NP_001302420.1:p.Lys247=
XM_017001321.2:c.675+226G= XP_016856810.1:n.675+226G=
NM_000530.8:c.741G= MANE Select NP_000521.2:p.Lys247=
NM_001315491.2:c.741G= NP_001302420.1:p.Lys247=