Canonical Allele Identifier: CA2648773165

Gene: MPZ

Linked Data

• gnomAD v4: 1-161305842-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305842C>G , CM000663.2:g.161305842C>G	GRCh38
NC_000001.10:g.161275632C>G , CM000663.1:g.161275632C>G	GRCh37
NC_000001.9:g.159542256C>G	NCBI36
NG_008055.1:g.9131G>C , LRG_256:g.9131G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.*34G>C	ENSP00000488104.2:n.*34G>C
ENST00000533357.5:c.*34G>C MANE Select	ENSP00000432943.1:n.*34G>C
ENST00000672287.2:c.*34G>C	ENSP00000499818.2:n.*34G>C
ENST00000672602.2:c.781G>C	ENSP00000500814.2:p.Gly261Arg
ENST00000674861.1:n.844G>C
ENST00000463290.5:c.*34G>C	ENSP00000431538.1:n.*34G>C
ENST00000476410.1:n.371G>C
ENST00000488271.1:n.219G>C
ENST00000491222.5:c.*34G>C	ENSP00000431441.1:n.*34G>C
ENST00000526189.2:c.444G>C
ENST00000533357.4:c.*34G>C	ENSP00000432943.1:n.*34G>C
NM_000530.6:c.*34G>C , LRG_256t1:c.*34G>C	NP_000521.2:n.*34G>C
NM_000530.7:c.*34G>C	NP_000521.2:n.*34G>C
NM_001315491.1:c.781G>C	NP_001302420.1:p.Gly261Arg
XM_017001321.2:c.675+266G>C	XP_016856810.1:n.675+266G>C
NM_000530.8:c.*34G>C MANE Select	NP_000521.2:n.*34G>C
NM_001315491.2:c.781G>C	NP_001302420.1:p.Gly261Arg