Canonical Allele Identifier: CA343349748

Gene: MPZ

Linked Data

• ClinVar Variation Id: 860307
• ClinVar RCV Id: RCV001066588
• dbSNP Id: rs1352220911
• gnomAD v2: 1-161276671-A-T
• gnomAD v4: 1-161306881-A-T
• MyVariant Identifiers: chr1:g.161276671A>T (hg19) ; chr1:g.161306881A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306881A>T , CM000663.2:g.161306881A>T	GRCh38
NC_000001.10:g.161276671A>T , CM000663.1:g.161276671A>T	GRCh37
NC_000001.9:g.159543295A>T	NCBI36
NG_008055.1:g.8092T>A , LRG_256:g.8092T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.275T>A	ENSP00000488104.2:p.Val92Glu
ENST00000533357.5:c.275T>A MANE Select	ENSP00000432943.1:p.Val92Glu
ENST00000672287.2:c.-314T>A	ENSP00000499818.2:n.-314T>A
ENST00000672602.2:c.275T>A	ENSP00000500814.2:p.Val92Glu
ENST00000674861.1:n.338T>A
ENST00000463290.5:c.275T>A	ENSP00000431538.1:p.Val92Glu
ENST00000491222.5:c.-314T>A	ENSP00000431441.1:n.-314T>A
ENST00000526189.2:c.19T>A
ENST00000533357.4:c.275T>A	ENSP00000432943.1:p.Val92Glu
NM_000530.6:c.275T>A , LRG_256t1:c.275T>A	NP_000521.2:p.Val92Glu
NM_000530.7:c.275T>A	NP_000521.2:p.Val92Glu
NM_001315491.1:c.275T>A	NP_001302420.1:p.Val92Glu
XM_017001321.2:c.305T>A	XP_016856810.1:p.Val102Glu
NM_000530.8:c.275T>A MANE Select	NP_000521.2:p.Val92Glu
NM_001315491.2:c.275T>A	NP_001302420.1:p.Val92Glu