Canonical Allele Identifier: CA351452

Gene: MPZ

Linked Data

• ClinVar Variation Id: 242786
• ClinVar RCV Id: RCV000521368 ; RCV001339130
• dbSNP Id: rs267607244
• MyVariant Identifiers: chr1:g.161276680A>T (hg19) ; chr1:g.161306890A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306890A>T , CM000663.2:g.161306890A>T	GRCh38
NC_000001.10:g.161276680A>T , CM000663.1:g.161276680A>T	GRCh37
NC_000001.9:g.159543304A>T	NCBI36
NG_008055.1:g.8083T>A , LRG_256:g.8083T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.266T>A	ENSP00000488104.2:p.Ile89Asn
ENST00000533357.5:c.266T>A MANE Select	ENSP00000432943.1:p.Ile89Asn
ENST00000672287.2:c.-323T>A	ENSP00000499818.2:n.-323T>A
ENST00000672602.2:c.266T>A	ENSP00000500814.2:p.Ile89Asn
ENST00000674861.1:n.329T>A
ENST00000463290.5:c.266T>A	ENSP00000431538.1:p.Ile89Asn
ENST00000491222.5:c.-323T>A	ENSP00000431441.1:n.-323T>A
ENST00000526189.2:c.10T>A
ENST00000533357.4:c.266T>A	ENSP00000432943.1:p.Ile89Asn
NM_000530.6:c.266T>A , LRG_256t1:c.266T>A	NP_000521.2:p.Ile89Asn
NM_000530.7:c.266T>A	NP_000521.2:p.Ile89Asn
NM_001315491.1:c.266T>A	NP_001302420.1:p.Ile89Asn
XM_017001321.2:c.296T>A	XP_016856810.1:p.Ile99Asn
NM_000530.8:c.266T>A MANE Select	NP_000521.2:p.Ile89Asn
NM_001315491.2:c.266T>A	NP_001302420.1:p.Ile89Asn