Canonical Allele Identifier: CA343344064

Gene: MPZ

Linked Data

• ClinVar Variation Id: 637766
• ClinVar RCV Id: RCV000790067
• dbSNP Id: rs1571817094
• MyVariant Identifiers: chr1:g.161275707T>C (hg19) ; chr1:g.161305917T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305917T>C , CM000663.2:g.161305917T>C	GRCh38
NC_000001.10:g.161275707T>C , CM000663.1:g.161275707T>C	GRCh37
NC_000001.9:g.159542331T>C	NCBI36
NG_008055.1:g.9056A>G , LRG_256:g.9056A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.625A>G	ENSP00000488104.2:p.Lys209Glu
ENST00000533357.5:c.706A>G MANE Select	ENSP00000432943.1:p.Lys236Glu
ENST00000672287.2:c.118A>G	ENSP00000499818.2:p.Lys40Glu
ENST00000672602.2:c.706A>G	ENSP00000500814.2:p.Lys236Glu
ENST00000674861.1:n.769A>G
ENST00000463290.5:c.706A>G	ENSP00000431538.1:p.Lys236Glu
ENST00000476410.1:n.296A>G
ENST00000488271.1:n.144A>G
ENST00000491222.5:c.118A>G	ENSP00000431441.1:p.Lys40Glu
ENST00000526189.2:c.369A>G
ENST00000533357.4:c.706A>G	ENSP00000432943.1:p.Lys236Glu
NM_000530.6:c.706A>G , LRG_256t1:c.706A>G	NP_000521.2:p.Lys236Glu
NM_000530.7:c.706A>G	NP_000521.2:p.Lys236Glu
NM_001315491.1:c.706A>G	NP_001302420.1:p.Lys236Glu
XM_017001321.2:c.675+191A>G	XP_016856810.1:n.675+191A>G
NM_000530.8:c.706A>G MANE Select	NP_000521.2:p.Lys236Glu
NM_001315491.2:c.706A>G	NP_001302420.1:p.Lys236Glu