Canonical Allele Identifier: CA2574078153

Gene: MPZ

Linked Data

• gnomAD v4: 1-161305871-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305871A>C , CM000663.2:g.161305871A>C	GRCh38
NC_000001.10:g.161275661A>C , CM000663.1:g.161275661A>C	GRCh37
NC_000001.9:g.159542285A>C	NCBI36
NG_008055.1:g.9102T>G , LRG_256:g.9102T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.*5T>G	ENSP00000488104.2:n.*5T>G
ENST00000533357.5:c.*5T>G MANE Select	ENSP00000432943.1:n.*5T>G
ENST00000672287.2:c.*5T>G	ENSP00000499818.2:n.*5T>G
ENST00000672602.2:c.752T>G	ENSP00000500814.2:p.Leu251Ter
ENST00000674861.1:n.815T>G
ENST00000463290.5:c.*5T>G	ENSP00000431538.1:n.*5T>G
ENST00000476410.1:n.342T>G
ENST00000488271.1:n.190T>G
ENST00000491222.5:c.*5T>G	ENSP00000431441.1:n.*5T>G
ENST00000526189.2:c.415T>G
ENST00000533357.4:c.*5T>G	ENSP00000432943.1:n.*5T>G
NM_000530.6:c.*5T>G , LRG_256t1:c.*5T>G	NP_000521.2:n.*5T>G
NM_000530.7:c.*5T>G	NP_000521.2:n.*5T>G
NM_001315491.1:c.752T>G	NP_001302420.1:p.Leu251Ter
XM_017001321.2:c.675+237T>G	XP_016856810.1:n.675+237T>G
NM_000530.8:c.*5T>G MANE Select	NP_000521.2:n.*5T>G
NM_001315491.2:c.752T>G	NP_001302420.1:p.Leu251Ter