Canonical Allele Identifier: CA2648773168

Gene: MPZ

Linked Data

• gnomAD v4: 1-161305843-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305843T>G , CM000663.2:g.161305843T>G	GRCh38
NC_000001.10:g.161275633T>G , CM000663.1:g.161275633T>G	GRCh37
NC_000001.9:g.159542257T>G	NCBI36
NG_008055.1:g.9130A>C , LRG_256:g.9130A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.*33A>C	ENSP00000488104.2:n.*33A>C
ENST00000533357.5:c.*33A>C MANE Select	ENSP00000432943.1:n.*33A>C
ENST00000672287.2:c.*33A>C	ENSP00000499818.2:n.*33A>C
ENST00000672602.2:c.780A>C	ENSP00000500814.2:p.Leu260Phe
ENST00000674861.1:n.843A>C
ENST00000463290.5:c.*33A>C	ENSP00000431538.1:n.*33A>C
ENST00000476410.1:n.370A>C
ENST00000488271.1:n.218A>C
ENST00000491222.5:c.*33A>C	ENSP00000431441.1:n.*33A>C
ENST00000526189.2:c.443A>C
ENST00000533357.4:c.*33A>C	ENSP00000432943.1:n.*33A>C
NM_000530.6:c.*33A>C , LRG_256t1:c.*33A>C	NP_000521.2:n.*33A>C
NM_000530.7:c.*33A>C	NP_000521.2:n.*33A>C
NM_001315491.1:c.780A>C	NP_001302420.1:p.Leu260Phe
XM_017001321.2:c.675+265A>C	XP_016856810.1:n.675+265A>C
NM_000530.8:c.*33A>C MANE Select	NP_000521.2:n.*33A>C
NM_001315491.2:c.780A>C	NP_001302420.1:p.Leu260Phe