Canonical Allele Identifier: CA123798

Gene: MPZ

Linked Data

• ClinVar Variation Id: 14170
• ClinVar RCV Id: RCV000015233 ; RCV000032123 ; RCV000198029 ; RCV001851867
• dbSNP Id: rs121913586
• MyVariant Identifiers: chr1:g.161276204C>G (hg19) ; chr1:g.161306414C>G (hg38)
• PubMed: PMID:3467805 ; PMID:7506095 ; PMID:20301384 ; PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306414C>G , CM000663.2:g.161306414C>G	GRCh38
NC_000001.10:g.161276204C>G , CM000663.1:g.161276204C>G	GRCh37
NC_000001.9:g.159542828C>G	NCBI36
NG_008055.1:g.8559G>C , LRG_256:g.8559G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.418G>C	ENSP00000488104.2:p.Gly140Arg
ENST00000533357.5:c.499G>C MANE Select	ENSP00000432943.1:p.Gly167Arg
ENST00000672287.2:c.-90G>C	ENSP00000499818.2:n.-90G>C
ENST00000672602.2:c.499G>C	ENSP00000500814.2:p.Gly167Arg
ENST00000674861.1:n.562G>C
ENST00000463290.5:c.499G>C	ENSP00000431538.1:p.Gly167Arg
ENST00000491222.5:c.-90G>C	ENSP00000431441.1:n.-90G>C
ENST00000526189.2:c.162G>C
ENST00000533357.4:c.499G>C	ENSP00000432943.1:p.Gly167Arg
NM_000530.6:c.499G>C , LRG_256t1:c.499G>C	NP_000521.2:p.Gly167Arg
NM_000530.7:c.499G>C	NP_000521.2:p.Gly167Arg
NM_001315491.1:c.499G>C	NP_001302420.1:p.Gly167Arg
XM_017001321.2:c.529G>C	XP_016856810.1:p.Gly177Arg
NM_000530.8:c.499G>C MANE Select	NP_000521.2:p.Gly167Arg
NM_001315491.2:c.499G>C	NP_001302420.1:p.Gly167Arg