Canonical Allele Identifier: CA2648773231

Gene: MPZ

Linked Data

• gnomAD v4: 1-161306022-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306022G>A , CM000663.2:g.161306022G>A	GRCh38
NC_000001.10:g.161275812G>A , CM000663.1:g.161275812G>A	GRCh37
NC_000001.9:g.159542436G>A	NCBI36
NG_008055.1:g.8951C>T , LRG_256:g.8951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.565-45C>T	ENSP00000488104.2:n.565-45C>T
ENST00000533357.5:c.646-45C>T MANE Select	ENSP00000432943.1:n.646-45C>T
ENST00000672287.2:c.58-45C>T	ENSP00000499818.2:n.58-45C>T
ENST00000672602.2:c.646-45C>T	ENSP00000500814.2:n.646-45C>T
ENST00000674861.1:n.709-45C>T
ENST00000463290.5:c.646-45C>T	ENSP00000431538.1:n.646-45C>T
ENST00000476410.1:n.191C>T
ENST00000488271.1:n.84-45C>T
ENST00000491222.5:c.58-45C>T	ENSP00000431441.1:n.58-45C>T
ENST00000526189.2:c.309-45C>T
ENST00000533357.4:c.646-45C>T	ENSP00000432943.1:n.646-45C>T
NM_000530.6:c.646-45C>T , LRG_256t1:c.646-45C>T	NP_000521.2:n.646-45C>T
NM_000530.7:c.646-45C>T	NP_000521.2:n.646-45C>T
NM_001315491.1:c.646-45C>T	NP_001302420.1:n.646-45C>T
XM_017001321.2:c.675+86C>T	XP_016856810.1:n.675+86C>T
NM_000530.8:c.646-45C>T MANE Select	NP_000521.2:n.646-45C>T
NM_001315491.2:c.646-45C>T	NP_001302420.1:n.646-45C>T