Canonical Allele Identifier: CA257160

Gene: MPZ

Linked Data

• ClinVar Variation Id: 14184
• ClinVar RCV Id: RCV000015248 ; RCV000190346 ; RCV001070451
• dbSNP Id: rs121913597
• MyVariant Identifiers: chr1:g.161277058T>A (hg19) ; chr1:g.161307268T>A (hg38)
• PubMed: PMID:11080237 ; PMID:20301384 ; PMID:20301462

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307268T>A , CM000663.2:g.161307268T>A	GRCh38
NC_000001.10:g.161277058T>A , CM000663.1:g.161277058T>A	GRCh37
NC_000001.9:g.159543682T>A	NCBI36
NG_008055.1:g.7705A>T , LRG_256:g.7705A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.224A>T	ENSP00000488104.2:p.Asp75Val
ENST00000533357.5:c.224A>T MANE Select	ENSP00000432943.1:p.Asp75Val
ENST00000672287.2:c.-365A>T	ENSP00000499818.2:n.-365A>T
ENST00000672602.2:c.224A>T	ENSP00000500814.2:p.Asp75Val
ENST00000674861.1:n.287A>T
ENST00000463290.5:c.224A>T	ENSP00000431538.1:p.Asp75Val
ENST00000491222.5:c.-365A>T	ENSP00000431441.1:n.-365A>T
ENST00000533357.4:c.224A>T	ENSP00000432943.1:p.Asp75Val
NM_000530.6:c.224A>T , LRG_256t1:c.224A>T	NP_000521.2:p.Asp75Val
NM_000530.7:c.224A>T	NP_000521.2:p.Asp75Val
NM_001315491.1:c.224A>T	NP_001302420.1:p.Asp75Val
XM_017001321.2:c.254A>T	XP_016856810.1:p.Asp85Val
NM_000530.8:c.224A>T MANE Select	NP_000521.2:p.Asp75Val
NM_001315491.2:c.224A>T	NP_001302420.1:p.Asp75Val