Canonical Allele Identifier: CA243183

Gene: MPZ

Linked Data

• ClinVar Variation Id: 41021
• ClinVar RCV Id: RCV000033918 ; RCV000516461 ; RCV000819474
• dbSNP Id: rs281865127
• MyVariant Identifiers: chr1:g.161276557T>C (hg19) ; chr1:g.161306767T>C (hg38)
• PubMed: PMID:8797476 ; PMID:8938258 ; PMID:10923043 ; PMID:12477701 ; PMID:14711881 ; PMID:20301384 ; PMID:23891399 ; PMID:26310628 ; PMID:26454100 ; PMID:27353517

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306767T>C , CM000663.2:g.161306767T>C	GRCh38
NC_000001.10:g.161276557T>C , CM000663.1:g.161276557T>C	GRCh37
NC_000001.9:g.159543181T>C	NCBI36
NG_008055.1:g.8206A>G , LRG_256:g.8206A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.367+22A>G	ENSP00000488104.2:n.367+22A>G
ENST00000533357.5:c.389A>G MANE Select	ENSP00000432943.1:p.Lys130Arg
ENST00000672287.2:c.-200A>G	ENSP00000499818.2:n.-200A>G
ENST00000672602.2:c.389A>G	ENSP00000500814.2:p.Lys130Arg
ENST00000674861.1:n.452A>G
ENST00000463290.5:c.389A>G	ENSP00000431538.1:p.Lys130Arg
ENST00000491222.5:c.-200A>G	ENSP00000431441.1:n.-200A>G
ENST00000526189.2:c.111+22A>G
ENST00000533357.4:c.389A>G	ENSP00000432943.1:p.Lys130Arg
NM_000530.6:c.389A>G , LRG_256t1:c.389A>G	NP_000521.2:p.Lys130Arg
NM_000530.7:c.389A>G	NP_000521.2:p.Lys130Arg
NM_001315491.1:c.389A>G	NP_001302420.1:p.Lys130Arg
XM_017001321.2:c.419A>G	XP_016856810.1:p.Lys140Arg
NM_000530.8:c.389A>G MANE Select	NP_000521.2:p.Lys130Arg
NM_001315491.2:c.389A>G	NP_001302420.1:p.Lys130Arg