Canonical Allele Identifier: CA16609901

Gene: MPZ

Linked Data

• ClinVar Variation Id: 411659
• ClinVar RCV Id: RCV000470371
• dbSNP Id: rs1553259651
• MyVariant Identifiers: chr1:g.161276563_161276566dupTCAC (hg19) ; chr1:g.161276562_161276563insTCAC (hg19) ; chr1:g.161306773_161306776dupTCAC (hg38) ; chr1:g.161306772_161306773insTCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306773_161306776dup , CM000663.2:g.161306773_161306776dup	GRCh38
NC_000001.10:g.161276563_161276566dup , CM000663.1:g.161276563_161276566dup	GRCh37
NC_000001.9:g.159543187_159543190dup	NCBI36
NG_008055.1:g.8197_8200dup , LRG_256:g.8197_8200dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+13_367+16dup	ENSP00000488104.2:n.367+13_367+16dup
ENST00000533357.5:c.380_383dup MANE Select	ENSP00000432943.1:p.Asp128GlufsTer2
ENST00000672287.2:c.-209_-206dup	ENSP00000499818.2:n.-209_-206dup
ENST00000672602.2:c.380_383dup	ENSP00000500814.2:p.Asp128GlufsTer2
ENST00000674861.1:n.443_446dup
ENST00000463290.5:c.380_383dup	ENSP00000431538.1:p.Asp128GlufsTer2
ENST00000491222.5:c.-209_-206dup	ENSP00000431441.1:n.-209_-206dup
ENST00000526189.2:c.111+13_111+16dup
ENST00000533357.4:c.380_383dup	ENSP00000432943.1:p.Asp128GlufsTer2
NM_000530.6:c.380_383dup , LRG_256t1:c.380_383dup	NP_000521.2:p.Asp128GlufsTer2
NM_000530.7:c.380_383dup	NP_000521.2:p.Asp128GlufsTer2
NM_001315491.1:c.380_383dup	NP_001302420.1:p.Asp128GlufsTer2
XM_017001321.2:c.410_413dup	XP_016856810.1:p.Asp138GlufsTer2
NM_000530.8:c.380_383dup MANE Select	NP_000521.2:p.Asp128GlufsTer2
NM_001315491.2:c.380_383dup	NP_001302420.1:p.Asp128GlufsTer2