Canonical Allele Identifier: CA31667444

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305516G>C , CM000663.2:g.161305516G>C	GRCh38
NC_000001.10:g.161275306G>C , CM000663.1:g.161275306G>C	GRCh37
NC_000001.9:g.159541930G>C	NCBI36
NG_008055.1:g.9457C>G , LRG_256:g.9457C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000530.8:c.*360C>G MANE Select	NP_000521.2:n.*360C>G
ENST00000533357.5:c.*360C>G MANE Select	ENSP00000432943.1:n.*360C>G
NM_000530.6:c.*360C>G , LRG_256t1:c.*360C>G	NP_000521.2:n.*360C>G
NM_000530.7:c.*360C>G	NP_000521.2:n.*360C>G
NM_001315491.1:c.*168C>G	NP_001302420.1:n.*168C>G
NM_001315491.2:c.*168C>G	NP_001302420.1:n.*168C>G
ENST00000463290.5:c.*342+18C>G	ENSP00000431538.1:n.*342+18C>G
ENST00000476410.1:n.697C>G
ENST00000491222.5:c.*360C>G	ENSP00000431441.1:n.*360C>G
ENST00000526189.2:c.770C>G
ENST00000526189.3:c.*360C>G	ENSP00000488104.2:n.*360C>G
ENST00000533357.4:c.*360C>G	ENSP00000432943.1:n.*360C>G
ENST00000672287.2:c.*360C>G	ENSP00000499818.2:n.*360C>G
ENST00000672602.2:c.*168C>G	ENSP00000500814.2:n.*168C>G
ENST00000674861.1:n.1170C>G
XM_017001321.2:c.675+592C>G	XP_016856810.1:n.675+592C>G