Canonical Allele Identifier: CA2648773256

Gene: MPZ

Linked Data

• gnomAD v4: 1-161306091-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306091C>T , CM000663.2:g.161306091C>T	GRCh38
NC_000001.10:g.161275881C>T , CM000663.1:g.161275881C>T	GRCh37
NC_000001.9:g.159542505C>T	NCBI36
NG_008055.1:g.8882G>A , LRG_256:g.8882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.564+17G>A	ENSP00000488104.2:n.564+17G>A
ENST00000533357.5:c.645+17G>A MANE Select	ENSP00000432943.1:n.645+17G>A
ENST00000672287.2:c.57+17G>A	ENSP00000499818.2:n.57+17G>A
ENST00000672602.2:c.645+17G>A	ENSP00000500814.2:n.645+17G>A
ENST00000674861.1:n.708+17G>A
ENST00000463290.5:c.645+17G>A	ENSP00000431538.1:n.645+17G>A
ENST00000476410.1:n.122G>A
ENST00000488271.1:n.83+17G>A
ENST00000491222.5:c.57+17G>A	ENSP00000431441.1:n.57+17G>A
ENST00000526189.2:c.308+17G>A
ENST00000533357.4:c.645+17G>A	ENSP00000432943.1:n.645+17G>A
NM_000530.6:c.645+17G>A , LRG_256t1:c.645+17G>A	NP_000521.2:n.645+17G>A
NM_000530.7:c.645+17G>A	NP_000521.2:n.645+17G>A
NM_001315491.1:c.645+17G>A	NP_001302420.1:n.645+17G>A
XM_017001321.2:c.675+17G>A	XP_016856810.1:n.675+17G>A
NM_000530.8:c.645+17G>A MANE Select	NP_000521.2:n.645+17G>A
NM_001315491.2:c.645+17G>A	NP_001302420.1:n.645+17G>A