Canonical Allele Identifier: CA343888

Gene: MPZ

Linked Data

• ClinVar Variation Id: 41014
• ClinVar RCV Id: RCV000033911 ; RCV000789434 ; RCV001051613
• dbSNP Id: rs281865121
• MyVariant Identifiers: chr1:g.161277193A>G (hg19) ; chr1:g.161307403A>G (hg38)
• PubMed: PMID:20301384

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307403A>G , CM000663.2:g.161307403A>G	GRCh38
NC_000001.10:g.161277193A>G , CM000663.1:g.161277193A>G	GRCh37
NC_000001.9:g.159543817A>G	NCBI36
NG_008055.1:g.7570T>C , LRG_256:g.7570T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.89T>C	ENSP00000488104.2:p.Ile30Thr
ENST00000533357.5:c.89T>C MANE Select	ENSP00000432943.1:p.Ile30Thr
ENST00000672287.2:c.-500T>C	ENSP00000499818.2:n.-500T>C
ENST00000672602.2:c.89T>C	ENSP00000500814.2:p.Ile30Thr
ENST00000674861.1:n.152T>C
ENST00000463290.5:c.89T>C	ENSP00000431538.1:p.Ile30Thr
ENST00000491222.5:c.-500T>C	ENSP00000431441.1:n.-500T>C
ENST00000533357.4:c.89T>C	ENSP00000432943.1:p.Ile30Thr
NM_000530.6:c.89T>C , LRG_256t1:c.89T>C	NP_000521.2:p.Ile30Thr
NM_000530.7:c.89T>C	NP_000521.2:p.Ile30Thr
NM_001315491.1:c.89T>C	NP_001302420.1:p.Ile30Thr
XM_017001321.2:c.119T>C	XP_016856810.1:p.Ile40Thr
NM_000530.8:c.89T>C MANE Select	NP_000521.2:p.Ile30Thr
NM_001315491.2:c.89T>C	NP_001302420.1:p.Ile30Thr