Canonical Allele Identifier: CA341323

Gene: MPZ

Linked Data

• ClinVar Variation Id: 14179
• ClinVar RCV Id: RCV000518134 ; RCV000789479 ; RCV001385507 ; RCV000015242
• dbSNP Id: rs121913594
• MyVariant Identifiers: chr1:g.161276704T>C (hg19) ; chr1:g.161306914T>C (hg38)
• PubMed: PMID:8990016 ; PMID:10475757 ; PMID:18337304 ; PMID:20301384 ; PMID:21840889

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306914T>C , CM000663.2:g.161306914T>C	GRCh38
NC_000001.10:g.161276704T>C , CM000663.1:g.161276704T>C	GRCh37
NC_000001.9:g.159543328T>C	NCBI36
NG_008055.1:g.8059A>G , LRG_256:g.8059A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.242A>G	ENSP00000488104.2:p.His81Arg
ENST00000533357.5:c.242A>G MANE Select	ENSP00000432943.1:p.His81Arg
ENST00000672287.2:c.-347A>G	ENSP00000499818.2:n.-347A>G
ENST00000672602.2:c.242A>G	ENSP00000500814.2:p.His81Arg
ENST00000674861.1:n.305A>G
ENST00000463290.5:c.242A>G	ENSP00000431538.1:p.His81Arg
ENST00000491222.5:c.-347A>G	ENSP00000431441.1:n.-347A>G
ENST00000533357.4:c.242A>G	ENSP00000432943.1:p.His81Arg
NM_000530.6:c.242A>G , LRG_256t1:c.242A>G	NP_000521.2:p.His81Arg
NM_000530.7:c.242A>G	NP_000521.2:p.His81Arg
NM_001315491.1:c.242A>G	NP_001302420.1:p.His81Arg
XM_017001321.2:c.272A>G	XP_016856810.1:p.His91Arg
NM_000530.8:c.242A>G MANE Select	NP_000521.2:p.His81Arg
NM_001315491.2:c.242A>G	NP_001302420.1:p.His81Arg