Canonical Allele Identifier: CA1210060

Gene: MPZ

Linked Data

• ClinVar Variation Id: 1757909
• ClinVar RCV Id: RCV002371103
• dbSNP Id: rs747565421
• ExAC: 1:161275688 TC / T
• gnomAD v2: 1-161275688-TC-T
• gnomAD v3: 1-161305898-TC-T
• gnomAD v4: 1-161305898-TC-T
• MyVariant Identifiers: chr1:g.161275689del (hg19) ; chr1:g.161305899del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305903del , CM000663.2:g.161305903del	GRCh38
NC_000001.10:g.161275693del , CM000663.1:g.161275693del	GRCh37
NC_000001.9:g.159542317del	NCBI36
NG_008055.1:g.9074del , LRG_256:g.9074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.643del	ENSP00000488104.2:p.Glu215SerfsTer10
ENST00000533357.5:c.724del MANE Select	ENSP00000432943.1:p.Glu242SerfsTer10
ENST00000672287.2:c.136del	ENSP00000499818.2:p.Glu46SerfsTer10
ENST00000672602.2:c.724del	ENSP00000500814.2:p.Glu242SerfsTer10
ENST00000674861.1:n.787del
ENST00000463290.5:c.724del	ENSP00000431538.1:p.Glu242SerfsTer10
ENST00000476410.1:n.314del
ENST00000488271.1:n.162del
ENST00000491222.5:c.136del	ENSP00000431441.1:p.Glu46SerfsTer10
ENST00000526189.2:c.387del
ENST00000533357.4:c.724del	ENSP00000432943.1:p.Glu242SerfsTer10
NM_000530.6:c.724del , LRG_256t1:c.724del	NP_000521.2:p.Glu242SerfsTer10
NM_000530.7:c.724del	NP_000521.2:p.Glu242SerfsTer10
NM_001315491.1:c.724del	NP_001302420.1:p.Glu242SerfsTer10
XM_017001321.2:c.675+209del	XP_016856810.1:n.675+209del
NM_000530.8:c.724del MANE Select	NP_000521.2:p.Glu242SerfsTer10
NM_001315491.2:c.724del	NP_001302420.1:p.Glu242SerfsTer10