Canonical Allele Identifier: CA2580061317

Gene: MPZ

Linked Data

• ClinVar Variation Id: 2124272
• ClinVar RCV Id: RCV003035835

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306695T>A , CM000663.2:g.161306695T>A	GRCh38
NC_000001.10:g.161276485T>A , CM000663.1:g.161276485T>A	GRCh37
NC_000001.9:g.159543109T>A	NCBI36
NG_008055.1:g.8278A>T , LRG_256:g.8278A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+94A>T	ENSP00000488104.2:n.367+94A>T
ENST00000533357.5:c.448+13A>T MANE Select	ENSP00000432943.1:n.448+13A>T
ENST00000672287.2:c.-141+13A>T	ENSP00000499818.2:n.-141+13A>T
ENST00000672602.2:c.448+13A>T	ENSP00000500814.2:n.448+13A>T
ENST00000674861.1:n.511+13A>T
ENST00000463290.5:c.448+13A>T	ENSP00000431538.1:n.448+13A>T
ENST00000491222.5:c.-141+13A>T	ENSP00000431441.1:n.-141+13A>T
ENST00000526189.2:c.111+94A>T
ENST00000533357.4:c.448+13A>T	ENSP00000432943.1:n.448+13A>T
NM_000530.6:c.448+13A>T , LRG_256t1:c.448+13A>T	NP_000521.2:n.448+13A>T
NM_000530.7:c.448+13A>T	NP_000521.2:n.448+13A>T
NM_001315491.1:c.448+13A>T	NP_001302420.1:n.448+13A>T
XM_017001321.2:c.478+13A>T	XP_016856810.1:n.478+13A>T
NM_000530.8:c.448+13A>T MANE Select	NP_000521.2:n.448+13A>T
NM_001315491.2:c.448+13A>T	NP_001302420.1:n.448+13A>T