Canonical Allele Identifier: CA915943853

Gene: MPZ

Linked Data

• ClinVar Variation Id: 637794
• ClinVar RCV Id: RCV000790111
• dbSNP Id: rs1571817197

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305961_161305962dup , CM000663.2:g.161305961_161305962dup	GRCh38
NC_000001.10:g.161275751_161275752dup , CM000663.1:g.161275751_161275752dup	GRCh37
NC_000001.9:g.159542375_159542376dup	NCBI36
NG_008055.1:g.9011_9012dup , LRG_256:g.9011_9012dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.580_581dup	ENSP00000488104.2:p.Met195GlnfsTer?
ENST00000533357.5:c.661_662dup MANE Select	ENSP00000432943.1:p.Met222GlnfsTer?
ENST00000672287.2:c.73_74dup	ENSP00000499818.2:p.Met26GlnfsTer?
ENST00000672602.2:c.661_662dup	ENSP00000500814.2:p.Met222GlnfsTer?
ENST00000674861.1:n.724_725dup
ENST00000463290.5:c.661_662dup	ENSP00000431538.1:p.Met222GlnfsTer?
ENST00000476410.1:n.251_252dup
ENST00000488271.1:n.99_100dup
ENST00000491222.5:c.73_74dup	ENSP00000431441.1:p.Met26GlnfsTer?
ENST00000526189.2:c.324_325dup
ENST00000533357.4:c.661_662dup	ENSP00000432943.1:p.Met222GlnfsTer?
NM_000530.6:c.661_662dup , LRG_256t1:c.661_662dup	NP_000521.2:p.Met222GlnfsTer?
NM_000530.7:c.661_662dup	NP_000521.2:p.Met222GlnfsTer?
NM_001315491.1:c.661_662dup	NP_001302420.1:p.Met222GlnfsTer?
XM_017001321.2:c.675+146_675+147dup	XP_016856810.1:n.675+146_675+147dup
NM_000530.8:c.661_662dup MANE Select	NP_000521.2:p.Met222GlnfsTer?
NM_001315491.2:c.661_662dup	NP_001302420.1:p.Met222GlnfsTer?