Canonical Allele Identifier: CA343344146

Gene: MPZ

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305924A>T , CM000663.2:g.161305924A>T	GRCh38
NC_000001.10:g.161275714A>T , CM000663.1:g.161275714A>T	GRCh37
NC_000001.9:g.159542338A>T	NCBI36
NG_008055.1:g.9049T>A , LRG_256:g.9049T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.618T>A	ENSP00000488104.2:p.Ser206Arg
ENST00000533357.5:c.699T>A MANE Select	ENSP00000432943.1:p.Ser233Arg
ENST00000672287.2:c.111T>A	ENSP00000499818.2:p.Ser37Arg
ENST00000672602.2:c.699T>A	ENSP00000500814.2:p.Ser233Arg
ENST00000674861.1:n.762T>A
ENST00000463290.5:c.699T>A	ENSP00000431538.1:p.Ser233Arg
ENST00000476410.1:n.289T>A
ENST00000488271.1:n.137T>A
ENST00000491222.5:c.111T>A	ENSP00000431441.1:p.Ser37Arg
ENST00000526189.2:c.362T>A
ENST00000533357.4:c.699T>A	ENSP00000432943.1:p.Ser233Arg
NM_000530.6:c.699T>A , LRG_256t1:c.699T>A	NP_000521.2:p.Ser233Arg
NM_000530.7:c.699T>A	NP_000521.2:p.Ser233Arg
NM_001315491.1:c.699T>A	NP_001302420.1:p.Ser233Arg
XM_017001321.2:c.675+184T>A	XP_016856810.1:n.675+184T>A
NM_000530.8:c.699T>A MANE Select	NP_000521.2:p.Ser233Arg
NM_001315491.2:c.699T>A	NP_001302420.1:p.Ser233Arg