Canonical Allele Identifier: CA123803

Gene: MPZ

Linked Data

• ClinVar Variation Id: 14186
• ClinVar RCV Id: RCV000015250 ; RCV000192587 ; RCV000517209 ; RCV001060346
• dbSNP Id: rs121913599
• MyVariant Identifiers: chr1:g.161276553G>T (hg19) ; chr1:g.161306763G>T (hg38)
• PubMed: PMID:10553995 ; PMID:20301384 ; PMID:21107784

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306763G>T , CM000663.2:g.161306763G>T	GRCh38
NC_000001.10:g.161276553G>T , CM000663.1:g.161276553G>T	GRCh37
NC_000001.9:g.159543177G>T	NCBI36
NG_008055.1:g.8210C>A , LRG_256:g.8210C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.367+26C>A	ENSP00000488104.2:n.367+26C>A
ENST00000533357.5:c.393C>A MANE Select	ENSP00000432943.1:p.Asn131Lys
ENST00000672287.2:c.-196C>A	ENSP00000499818.2:n.-196C>A
ENST00000672602.2:c.393C>A	ENSP00000500814.2:p.Asn131Lys
ENST00000674861.1:n.456C>A
ENST00000463290.5:c.393C>A	ENSP00000431538.1:p.Asn131Lys
ENST00000491222.5:c.-196C>A	ENSP00000431441.1:n.-196C>A
ENST00000526189.2:c.111+26C>A
ENST00000533357.4:c.393C>A	ENSP00000432943.1:p.Asn131Lys
NM_000530.6:c.393C>A , LRG_256t1:c.393C>A	NP_000521.2:p.Asn131Lys
NM_000530.7:c.393C>A	NP_000521.2:p.Asn131Lys
NM_001315491.1:c.393C>A	NP_001302420.1:p.Asn131Lys
XM_017001321.2:c.423C>A	XP_016856810.1:p.Asn141Lys
NM_000530.8:c.393C>A MANE Select	NP_000521.2:p.Asn131Lys
NM_001315491.2:c.393C>A	NP_001302420.1:p.Asn131Lys