Canonical Allele Identifier: CA527135347

Gene: MPZ

Linked Data

• ClinVar Variation Id: 1617017
• ClinVar RCV Id: RCV002076290
• dbSNP Id: rs1224416223
• gnomAD v2: 1-161276488-C-T
• gnomAD v4: 1-161306698-C-T
• MyVariant Identifiers: chr1:g.161276488C>T (hg19) ; chr1:g.161306698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306698C>T , CM000663.2:g.161306698C>T	GRCh38
NC_000001.10:g.161276488C>T , CM000663.1:g.161276488C>T	GRCh37
NC_000001.9:g.159543112C>T	NCBI36
NG_008055.1:g.8275G>A , LRG_256:g.8275G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+91G>A	ENSP00000488104.2:n.367+91G>A
ENST00000533357.5:c.448+10G>A MANE Select	ENSP00000432943.1:n.448+10G>A
ENST00000672287.2:c.-141+10G>A	ENSP00000499818.2:n.-141+10G>A
ENST00000672602.2:c.448+10G>A	ENSP00000500814.2:n.448+10G>A
ENST00000674861.1:n.511+10G>A
ENST00000463290.5:c.448+10G>A	ENSP00000431538.1:n.448+10G>A
ENST00000491222.5:c.-141+10G>A	ENSP00000431441.1:n.-141+10G>A
ENST00000526189.2:c.111+91G>A
ENST00000533357.4:c.448+10G>A	ENSP00000432943.1:n.448+10G>A
NM_000530.6:c.448+10G>A , LRG_256t1:c.448+10G>A	NP_000521.2:n.448+10G>A
NM_000530.7:c.448+10G>A	NP_000521.2:n.448+10G>A
NM_001315491.1:c.448+10G>A	NP_001302420.1:n.448+10G>A
XM_017001321.2:c.478+10G>A	XP_016856810.1:n.478+10G>A
NM_000530.8:c.448+10G>A MANE Select	NP_000521.2:n.448+10G>A
NM_001315491.2:c.448+10G>A	NP_001302420.1:n.448+10G>A