Canonical Allele Identifier: CA2574078133

Gene: MPZ

Linked Data

• gnomAD v4: 1-161305832-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305832G>T , CM000663.2:g.161305832G>T	GRCh38
NC_000001.10:g.161275622G>T , CM000663.1:g.161275622G>T	GRCh37
NC_000001.9:g.159542246G>T	NCBI36
NG_008055.1:g.9141C>A , LRG_256:g.9141C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.*44C>A	ENSP00000488104.2:n.*44C>A
ENST00000533357.5:c.*44C>A MANE Select	ENSP00000432943.1:n.*44C>A
ENST00000672287.2:c.*44C>A	ENSP00000499818.2:n.*44C>A
ENST00000672602.2:c.791C>A	ENSP00000500814.2:p.Ser264Tyr
ENST00000674861.1:n.854C>A
ENST00000463290.5:c.*44C>A	ENSP00000431538.1:n.*44C>A
ENST00000476410.1:n.381C>A
ENST00000488271.1:n.229C>A
ENST00000491222.5:c.*44C>A	ENSP00000431441.1:n.*44C>A
ENST00000526189.2:c.454C>A
ENST00000533357.4:c.*44C>A	ENSP00000432943.1:n.*44C>A
NM_000530.6:c.*44C>A , LRG_256t1:c.*44C>A	NP_000521.2:n.*44C>A
NM_000530.7:c.*44C>A	NP_000521.2:n.*44C>A
NM_001315491.1:c.791C>A	NP_001302420.1:p.Ser264Tyr
XM_017001321.2:c.675+276C>A	XP_016856810.1:n.675+276C>A
NM_000530.8:c.*44C>A MANE Select	NP_000521.2:n.*44C>A
NM_001315491.2:c.791C>A	NP_001302420.1:p.Ser264Tyr