Canonical Allele Identifier: CA2648773366

Gene: MPZ

Linked Data

• gnomAD v4: 1-161306593-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306593G>C , CM000663.2:g.161306593G>C	GRCh38
NC_000001.10:g.161276383G>C , CM000663.1:g.161276383G>C	GRCh37
NC_000001.9:g.159543007G>C	NCBI36
NG_008055.1:g.8380C>G , LRG_256:g.8380C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.368-129C>G	ENSP00000488104.2:n.368-129C>G
ENST00000533357.5:c.448+115C>G MANE Select	ENSP00000432943.1:n.448+115C>G
ENST00000672287.2:c.-141+115C>G	ENSP00000499818.2:n.-141+115C>G
ENST00000672602.2:c.448+115C>G	ENSP00000500814.2:n.448+115C>G
ENST00000674861.1:n.511+115C>G
ENST00000463290.5:c.448+115C>G	ENSP00000431538.1:n.448+115C>G
ENST00000491222.5:c.-141+115C>G	ENSP00000431441.1:n.-141+115C>G
ENST00000526189.2:c.112-129C>G
ENST00000533357.4:c.448+115C>G	ENSP00000432943.1:n.448+115C>G
NM_000530.6:c.448+115C>G , LRG_256t1:c.448+115C>G	NP_000521.2:n.448+115C>G
NM_000530.7:c.448+115C>G	NP_000521.2:n.448+115C>G
NM_001315491.1:c.448+115C>G	NP_001302420.1:n.448+115C>G
XM_017001321.2:c.478+115C>G	XP_016856810.1:n.478+115C>G
NM_000530.8:c.448+115C>G MANE Select	NP_000521.2:n.448+115C>G
NM_001315491.2:c.448+115C>G	NP_001302420.1:n.448+115C>G