Canonical Allele Identifier: CA348853

Gene: MPZ

Linked Data

• ClinVar Variation Id: 221065
• ClinVar RCV Id: RCV000204639 ; RCV000517562 ; RCV000789432
• dbSNP Id: rs864622732
• gnomAD v4: 1-161307386-T-A
• MyVariant Identifiers: chr1:g.161277176T>A (hg19) ; chr1:g.161307386T>A (hg38)
• PubMed: PMID:16616847 ; PMID:18636082 ; PMID:26310628

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307386T>A , CM000663.2:g.161307386T>A	GRCh38
NC_000001.10:g.161277176T>A , CM000663.1:g.161277176T>A	GRCh37
NC_000001.9:g.159543800T>A	NCBI36
NG_008055.1:g.7587A>T , LRG_256:g.7587A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.106A>T	ENSP00000488104.2:p.Arg36Trp
ENST00000533357.5:c.106A>T MANE Select	ENSP00000432943.1:p.Arg36Trp
ENST00000672287.2:c.-483A>T	ENSP00000499818.2:n.-483A>T
ENST00000672602.2:c.106A>T	ENSP00000500814.2:p.Arg36Trp
ENST00000674861.1:n.169A>T
ENST00000463290.5:c.106A>T	ENSP00000431538.1:p.Arg36Trp
ENST00000491222.5:c.-483A>T	ENSP00000431441.1:n.-483A>T
ENST00000533357.4:c.106A>T	ENSP00000432943.1:p.Arg36Trp
NM_000530.6:c.106A>T , LRG_256t1:c.106A>T	NP_000521.2:p.Arg36Trp
NM_000530.7:c.106A>T	NP_000521.2:p.Arg36Trp
NM_001315491.1:c.106A>T	NP_001302420.1:p.Arg36Trp
XM_017001321.2:c.136A>T	XP_016856810.1:p.Arg46Trp
NM_000530.8:c.106A>T MANE Select	NP_000521.2:p.Arg36Trp
NM_001315491.2:c.106A>T	NP_001302420.1:p.Arg36Trp