Canonical Allele Identifier: CA10584090

Gene: MPZ

Linked Data

• ClinVar Variation Id: 243089
• ClinVar RCV Id: RCV000235064 ; RCV000789436
• dbSNP Id: rs879253858
• MyVariant Identifiers: chr1:g.161276543T>G (hg19) ; chr1:g.161306753T>G (hg38)
• PubMed: PMID:8664899 ; PMID:26257172

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306753T>G , CM000663.2:g.161306753T>G	GRCh38
NC_000001.10:g.161276543T>G , CM000663.1:g.161276543T>G	GRCh37
NC_000001.9:g.159543167T>G	NCBI36
NG_008055.1:g.8220A>C , LRG_256:g.8220A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+36A>C	ENSP00000488104.2:n.367+36A>C
ENST00000533357.5:c.403A>C MANE Select	ENSP00000432943.1:p.Ile135Leu
ENST00000672287.2:c.-186A>C	ENSP00000499818.2:n.-186A>C
ENST00000672602.2:c.403A>C	ENSP00000500814.2:p.Ile135Leu
ENST00000674861.1:n.466A>C
ENST00000463290.5:c.403A>C	ENSP00000431538.1:p.Ile135Leu
ENST00000491222.5:c.-186A>C	ENSP00000431441.1:n.-186A>C
ENST00000526189.2:c.111+36A>C
ENST00000533357.4:c.403A>C	ENSP00000432943.1:p.Ile135Leu
NM_000530.6:c.403A>C , LRG_256t1:c.403A>C	NP_000521.2:p.Ile135Leu
NM_000530.7:c.403A>C	NP_000521.2:p.Ile135Leu
NM_001315491.1:c.403A>C	NP_001302420.1:p.Ile135Leu
XM_017001321.2:c.433A>C	XP_016856810.1:p.Ile145Leu
NM_000530.8:c.403A>C MANE Select	NP_000521.2:p.Ile135Leu
NM_001315491.2:c.403A>C	NP_001302420.1:p.Ile135Leu