Canonical Allele Identifier: CA343345062

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306170T>C , CM000663.2:g.161306170T>C	GRCh38
NC_000001.10:g.161275960T>C , CM000663.1:g.161275960T>C	GRCh37
NC_000001.9:g.159542584T>C	NCBI36
NG_008055.1:g.8803A>G , LRG_256:g.8803A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000530.8:c.585-2A>G MANE Select	NP_000521.2:n.585-2A>G
ENST00000533357.5:c.585-2A>G MANE Select	ENSP00000432943.1:n.585-2A>G
NM_000530.6:c.585-2A>G , LRG_256t1:c.585-2A>G	NP_000521.2:n.585-2A>G
NM_000530.7:c.585-2A>G	NP_000521.2:n.585-2A>G
NM_001315491.1:c.585-2A>G	NP_001302420.1:n.585-2A>G
NM_001315491.2:c.585-2A>G	NP_001302420.1:n.585-2A>G
ENST00000463290.5:c.585-2A>G	ENSP00000431538.1:n.585-2A>G
ENST00000476410.1:n.45-2A>G
ENST00000488271.1:n.21A>G
ENST00000491222.5:c.-4-2A>G	ENSP00000431441.1:n.-4-2A>G
ENST00000526189.2:c.248-2A>G
ENST00000526189.3:c.504-2A>G	ENSP00000488104.2:n.504-2A>G
ENST00000533357.4:c.585-2A>G	ENSP00000432943.1:n.585-2A>G
ENST00000672287.2:c.-4-2A>G	ENSP00000499818.2:n.-4-2A>G
ENST00000672602.2:c.585-2A>G	ENSP00000500814.2:n.585-2A>G
ENST00000674861.1:n.648-2A>G
XM_017001321.2:c.615-2A>G	XP_016856810.1:n.615-2A>G