Canonical Allele Identifier: CA279120

Gene: MPZ

Linked Data

• ClinVar Variation Id: 217233
• ClinVar RCV Id: RCV000201196
• dbSNP Id: rs863225025
• MyVariant Identifiers: chr1:g.161276536C>T (hg19) ; chr1:g.161306746C>T (hg38)
• PubMed: PMID:24053775 ; PMID:24444136

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306746C>T , CM000663.2:g.161306746C>T	GRCh38
NC_000001.10:g.161276536C>T , CM000663.1:g.161276536C>T	GRCh37
NC_000001.9:g.159543160C>T	NCBI36
NG_008055.1:g.8227G>A , LRG_256:g.8227G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.367+43G>A	ENSP00000488104.2:n.367+43G>A
ENST00000533357.5:c.410G>A MANE Select	ENSP00000432943.1:p.Gly137Asp
ENST00000672287.2:c.-179G>A	ENSP00000499818.2:n.-179G>A
ENST00000672602.2:c.410G>A	ENSP00000500814.2:p.Gly137Asp
ENST00000674861.1:n.473G>A
ENST00000463290.5:c.410G>A	ENSP00000431538.1:p.Gly137Asp
ENST00000491222.5:c.-179G>A	ENSP00000431441.1:n.-179G>A
ENST00000526189.2:c.111+43G>A
ENST00000533357.4:c.410G>A	ENSP00000432943.1:p.Gly137Asp
NM_000530.6:c.410G>A , LRG_256t1:c.410G>A	NP_000521.2:p.Gly137Asp
NM_000530.7:c.410G>A	NP_000521.2:p.Gly137Asp
NM_001315491.1:c.410G>A	NP_001302420.1:p.Gly137Asp
XM_017001321.2:c.440G>A	XP_016856810.1:p.Gly147Asp
NM_000530.8:c.410G>A MANE Select	NP_000521.2:p.Gly137Asp
NM_001315491.2:c.410G>A	NP_001302420.1:p.Gly137Asp