Canonical Allele Identifier: CA343349091

Gene: MPZ

Linked Data

• ClinVar Variation Id: 872512
• ClinVar RCV Id: RCV001093012 ; RCV001856276
• dbSNP Id: rs1670263519
• MyVariant Identifiers: chr1:g.161276585C>T (hg19) ; chr1:g.161306795C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306795C>T , CM000663.2:g.161306795C>T	GRCh38
NC_000001.10:g.161276585C>T , CM000663.1:g.161276585C>T	GRCh37
NC_000001.9:g.159543209C>T	NCBI36
NG_008055.1:g.8178G>A , LRG_256:g.8178G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.361G>A	ENSP00000488104.2:p.Asp121Asn
ENST00000533357.5:c.361G>A MANE Select	ENSP00000432943.1:p.Asp121Asn
ENST00000672287.2:c.-228G>A	ENSP00000499818.2:n.-228G>A
ENST00000672602.2:c.361G>A	ENSP00000500814.2:p.Asp121Asn
ENST00000674861.1:n.424G>A
ENST00000463290.5:c.361G>A	ENSP00000431538.1:p.Asp121Asn
ENST00000491222.5:c.-228G>A	ENSP00000431441.1:n.-228G>A
ENST00000526189.2:c.105G>A
ENST00000533357.4:c.361G>A	ENSP00000432943.1:p.Asp121Asn
NM_000530.6:c.361G>A , LRG_256t1:c.361G>A	NP_000521.2:p.Asp121Asn
NM_000530.7:c.361G>A	NP_000521.2:p.Asp121Asn
NM_001315491.1:c.361G>A	NP_001302420.1:p.Asp121Asn
XM_017001321.2:c.391G>A	XP_016856810.1:p.Asp131Asn
NM_000530.8:c.361G>A MANE Select	NP_000521.2:p.Asp121Asn
NM_001315491.2:c.361G>A	NP_001302420.1:p.Asp121Asn