Canonical Allele Identifier: CA31667437

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305441A>C , CM000663.2:g.161305441A>C	GRCh38
NC_000001.10:g.161275231A>C , CM000663.1:g.161275231A>C	GRCh37
NC_000001.9:g.159541855A>C	NCBI36
NG_008055.1:g.9532T>G , LRG_256:g.9532T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.*435T>G	ENSP00000488104.2:n.*435T>G
ENST00000533357.5:c.*435T>G MANE Select	ENSP00000432943.1:n.*435T>G
ENST00000672287.2:c.*435T>G	ENSP00000499818.2:n.*435T>G
ENST00000672602.2:c.*243T>G	ENSP00000500814.2:n.*243T>G
ENST00000674861.1:n.1245T>G
ENST00000463290.5:c.*342+93T>G	ENSP00000431538.1:n.*342+93T>G
ENST00000476410.1:n.772T>G
ENST00000491222.5:c.*435T>G	ENSP00000431441.1:n.*435T>G
ENST00000526189.2:c.845T>G
ENST00000533357.4:c.*435T>G	ENSP00000432943.1:n.*435T>G
NM_000530.6:c.*435T>G , LRG_256t1:c.*435T>G	NP_000521.2:n.*435T>G
NM_000530.7:c.*435T>G	NP_000521.2:n.*435T>G
NM_001315491.1:c.*243T>G	NP_001302420.1:n.*243T>G
XM_017001321.2:c.675+667T>G	XP_016856810.1:n.675+667T>G
NM_000530.8:c.*435T>G MANE Select	NP_000521.2:n.*435T>G
NM_001315491.2:c.*243T>G	NP_001302420.1:n.*243T>G