Canonical Allele Identifier: CA339741

Gene: MPZ

Linked Data

• ClinVar Variation Id: 41022
• ClinVar RCV Id: RCV000033919 ; RCV000205003 ; RCV000217802 ; RCV000789486 ; RCV002326719
• dbSNP Id: rs281865128
• gnomAD v3: 1-161306426-C-G
• gnomAD v4: 1-161306426-C-G
• MyVariant Identifiers: chr1:g.161276216C>G (hg19) ; chr1:g.161306426C>G (hg38)
• PubMed: PMID:8800924 ; PMID:12207932 ; PMID:12402337 ; PMID:15170620 ; PMID:17915947 ; PMID:20301384 ; PMID:20461396

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306426C>G , CM000663.2:g.161306426C>G	GRCh38
NC_000001.10:g.161276216C>G , CM000663.1:g.161276216C>G	GRCh37
NC_000001.9:g.159542840C>G	NCBI36
NG_008055.1:g.8547G>C , LRG_256:g.8547G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.406G>C	ENSP00000488104.2:p.Gly136Arg
ENST00000533357.5:c.487G>C MANE Select	ENSP00000432943.1:p.Gly163Arg
ENST00000672287.2:c.-102G>C	ENSP00000499818.2:n.-102G>C
ENST00000672602.2:c.487G>C	ENSP00000500814.2:p.Gly163Arg
ENST00000674861.1:n.550G>C
ENST00000463290.5:c.487G>C	ENSP00000431538.1:p.Gly163Arg
ENST00000491222.5:c.-102G>C	ENSP00000431441.1:n.-102G>C
ENST00000526189.2:c.150G>C
ENST00000533357.4:c.487G>C	ENSP00000432943.1:p.Gly163Arg
NM_000530.6:c.487G>C , LRG_256t1:c.487G>C	NP_000521.2:p.Gly163Arg
NM_000530.7:c.487G>C	NP_000521.2:p.Gly163Arg
NM_001315491.1:c.487G>C	NP_001302420.1:p.Gly163Arg
XM_017001321.2:c.517G>C	XP_016856810.1:p.Gly173Arg
NM_000530.8:c.487G>C MANE Select	NP_000521.2:p.Gly163Arg
NM_001315491.2:c.487G>C	NP_001302420.1:p.Gly163Arg