Canonical Allele Identifier: CA343348179

Gene: MPZ

Linked Data

• ClinVar Variation Id: 836612
• ClinVar RCV Id: RCV001037786
• dbSNP Id: rs1670257659
• MyVariant Identifiers: chr1:g.161276506A>C (hg19) ; chr1:g.161306716A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306716A>C , CM000663.2:g.161306716A>C	GRCh38
NC_000001.10:g.161276506A>C , CM000663.1:g.161276506A>C	GRCh37
NC_000001.9:g.159543130A>C	NCBI36
NG_008055.1:g.8257T>G , LRG_256:g.8257T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+73T>G	ENSP00000488104.2:n.367+73T>G
ENST00000533357.5:c.440T>G MANE Select	ENSP00000432943.1:p.Phe147Cys
ENST00000672287.2:c.-149T>G	ENSP00000499818.2:n.-149T>G
ENST00000672602.2:c.440T>G	ENSP00000500814.2:p.Phe147Cys
ENST00000674861.1:n.503T>G
ENST00000463290.5:c.440T>G	ENSP00000431538.1:p.Phe147Cys
ENST00000491222.5:c.-149T>G	ENSP00000431441.1:n.-149T>G
ENST00000526189.2:c.111+73T>G
ENST00000533357.4:c.440T>G	ENSP00000432943.1:p.Phe147Cys
NM_000530.6:c.440T>G , LRG_256t1:c.440T>G	NP_000521.2:p.Phe147Cys
NM_000530.7:c.440T>G	NP_000521.2:p.Phe147Cys
NM_001315491.1:c.440T>G	NP_001302420.1:p.Phe147Cys
XM_017001321.2:c.470T>G	XP_016856810.1:p.Phe157Cys
NM_000530.8:c.440T>G MANE Select	NP_000521.2:p.Phe147Cys
NM_001315491.2:c.440T>G	NP_001302420.1:p.Phe147Cys