Canonical Allele Identifier: CA243183
Gene: MPZ HGNC NCBI

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
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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
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