Canonical Allele Identifier: CA1202689173
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306726G= , CM000663.2:g.161306726G= GRCh38
NC_000001.10:g.161276516G= , CM000663.1:g.161276516G= GRCh37
NC_000001.9:g.159543140G= NCBI36
NG_008055.1:g.8247C= , LRG_256:g.8247C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.367+63C= ENSP00000488104.2:n.367+63C=
ENST00000533357.5:c.430C= MANE Select ENSP00000432943.1:p.Leu144=
ENST00000672287.2:c.-159C= ENSP00000499818.2:n.-159C=
ENST00000672602.2:c.430C= ENSP00000500814.2:p.Leu144=
ENST00000674861.1:n.493C=
ENST00000463290.5:c.430C= ENSP00000431538.1:p.Leu144=
ENST00000491222.5:c.-159C= ENSP00000431441.1:n.-159C=
ENST00000526189.2:c.111+63C=
ENST00000533357.4:c.430C= ENSP00000432943.1:p.Leu144=
NM_000530.6:c.430C= , LRG_256t1:c.430C= NP_000521.2:p.Leu144=
NM_000530.7:c.430C= NP_000521.2:p.Leu144=
NM_001315491.1:c.430C= NP_001302420.1:p.Leu144=
XM_017001321.2:c.460C= XP_016856810.1:p.Leu154=
NM_000530.8:c.430C= MANE Select NP_000521.2:p.Leu144=
NM_001315491.2:c.430C= NP_001302420.1:p.Leu144=