Canonical Allele Identifier: CA343348808

Gene: MPZ

Linked Data

• ClinVar Variation Id: 1807432
• ClinVar RCV Id: RCV002475389
• gnomAD v4: 1-161306768-T-C
• MyVariant Identifiers: chr1:g.161276558T>C (hg19) ; chr1:g.161306768T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306768T>C , CM000663.2:g.161306768T>C	GRCh38
NC_000001.10:g.161276558T>C , CM000663.1:g.161276558T>C	GRCh37
NC_000001.9:g.159543182T>C	NCBI36
NG_008055.1:g.8205A>G , LRG_256:g.8205A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.367+21A>G	ENSP00000488104.2:n.367+21A>G
ENST00000533357.5:c.388A>G MANE Select	ENSP00000432943.1:p.Lys130Glu
ENST00000672287.2:c.-201A>G	ENSP00000499818.2:n.-201A>G
ENST00000672602.2:c.388A>G	ENSP00000500814.2:p.Lys130Glu
ENST00000674861.1:n.451A>G
ENST00000463290.5:c.388A>G	ENSP00000431538.1:p.Lys130Glu
ENST00000491222.5:c.-201A>G	ENSP00000431441.1:n.-201A>G
ENST00000526189.2:c.111+21A>G
ENST00000533357.4:c.388A>G	ENSP00000432943.1:p.Lys130Glu
NM_000530.6:c.388A>G , LRG_256t1:c.388A>G	NP_000521.2:p.Lys130Glu
NM_000530.7:c.388A>G	NP_000521.2:p.Lys130Glu
NM_001315491.1:c.388A>G	NP_001302420.1:p.Lys130Glu
XM_017001321.2:c.418A>G	XP_016856810.1:p.Lys140Glu
NM_000530.8:c.388A>G MANE Select	NP_000521.2:p.Lys130Glu
NM_001315491.2:c.388A>G	NP_001302420.1:p.Lys130Glu