Canonical Allele Identifier: CA658656970

Gene: MPZ

Linked Data

• ClinVar Variation Id: 462798
• ClinVar RCV Id: RCV000539811 ; RCV000712319 ; RCV004023896
• dbSNP Id: rs1553259511
• MyVariant Identifiers: chr1:g.161275767dup (hg19) ; chr1:g.161305977dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305977dup , CM000663.2:g.161305977dup	GRCh38
NC_000001.10:g.161275767dup , CM000663.1:g.161275767dup	GRCh37
NC_000001.9:g.159542391dup	NCBI36
NG_008055.1:g.8996dup , LRG_256:g.8996dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.565dup	ENSP00000488104.2:p.Thr189AsnfsTer19
ENST00000533357.5:c.646dup MANE Select	ENSP00000432943.1:p.Thr216AsnfsTer19
ENST00000672287.2:c.58dup	ENSP00000499818.2:p.Thr20AsnfsTer19
ENST00000672602.2:c.646dup	ENSP00000500814.2:p.Thr216AsnfsTer19
ENST00000674861.1:n.709dup
ENST00000463290.5:c.646dup	ENSP00000431538.1:p.Thr216AsnfsTer19
ENST00000476410.1:n.236dup
ENST00000488271.1:n.84dup
ENST00000491222.5:c.58dup	ENSP00000431441.1:p.Thr20AsnfsTer19
ENST00000526189.2:c.309dup
ENST00000533357.4:c.646dup	ENSP00000432943.1:p.Thr216AsnfsTer19
NM_000530.6:c.646dup , LRG_256t1:c.646dup	NP_000521.2:p.Thr216AsnfsTer19
NM_000530.7:c.646dup	NP_000521.2:p.Thr216AsnfsTer19
NM_001315491.1:c.646dup	NP_001302420.1:p.Thr216AsnfsTer19
XM_017001321.2:c.675+131dup	XP_016856810.1:n.675+131dup
NM_000530.8:c.646dup MANE Select	NP_000521.2:p.Thr216AsnfsTer19
NM_001315491.2:c.646dup	NP_001302420.1:p.Thr216AsnfsTer19