Canonical Allele Identifier: CA343349430

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306844G>T , CM000663.2:g.161306844G>T	GRCh38
NC_000001.10:g.161276634G>T , CM000663.1:g.161276634G>T	GRCh37
NC_000001.9:g.159543258G>T	NCBI36
NG_008055.1:g.8129C>A , LRG_256:g.8129C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000530.8:c.312C>A MANE Select	NP_000521.2:p.Asp104Glu
ENST00000533357.5:c.312C>A MANE Select	ENSP00000432943.1:p.Asp104Glu
NM_000530.6:c.312C>A , LRG_256t1:c.312C>A	NP_000521.2:p.Asp104Glu
NM_000530.7:c.312C>A	NP_000521.2:p.Asp104Glu
NM_001315491.1:c.312C>A	NP_001302420.1:p.Asp104Glu
NM_001315491.2:c.312C>A	NP_001302420.1:p.Asp104Glu
ENST00000463290.5:c.312C>A	ENSP00000431538.1:p.Asp104Glu
ENST00000491222.5:c.-277C>A	ENSP00000431441.1:n.-277C>A
ENST00000526189.2:c.56C>A
ENST00000526189.3:c.312C>A	ENSP00000488104.2:p.Asp104Glu
ENST00000533357.4:c.312C>A	ENSP00000432943.1:p.Asp104Glu
ENST00000672287.2:c.-277C>A	ENSP00000499818.2:n.-277C>A
ENST00000672602.2:c.312C>A	ENSP00000500814.2:p.Asp104Glu
ENST00000674861.1:n.375C>A
XM_017001321.2:c.342C>A	XP_016856810.1:p.Asp114Glu