Canonical Allele Identifier: CA1210065

Gene: MPZ

Linked Data

• ClinVar Variation Id: 531707
• ClinVar RCV Id: RCV000826930 ; RCV001442096 ; RCV002360551
• dbSNP Id: rs768913825
• ExAC: 1:161275705 C / T
• gnomAD v2: 1-161275705-C-T
• gnomAD v3: 1-161305915-C-T
• gnomAD v4: 1-161305915-C-T
• MyVariant Identifiers: chr1:g.161275705C>T (hg19) ; chr1:g.161305915C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305915C>T , CM000663.2:g.161305915C>T	GRCh38
NC_000001.10:g.161275705C>T , CM000663.1:g.161275705C>T	GRCh37
NC_000001.9:g.159542329C>T	NCBI36
NG_008055.1:g.9058G>A , LRG_256:g.9058G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.627G>A	ENSP00000488104.2:p.Lys209=
ENST00000533357.5:c.708G>A MANE Select	ENSP00000432943.1:p.Lys236=
ENST00000672287.2:c.120G>A	ENSP00000499818.2:p.Lys40=
ENST00000672602.2:c.708G>A	ENSP00000500814.2:p.Lys236=
ENST00000674861.1:n.771G>A
ENST00000463290.5:c.708G>A	ENSP00000431538.1:p.Lys236=
ENST00000476410.1:n.298G>A
ENST00000488271.1:n.146G>A
ENST00000491222.5:c.120G>A	ENSP00000431441.1:p.Lys40=
ENST00000526189.2:c.371G>A
ENST00000533357.4:c.708G>A	ENSP00000432943.1:p.Lys236=
NM_000530.6:c.708G>A , LRG_256t1:c.708G>A	NP_000521.2:p.Lys236=
NM_000530.7:c.708G>A	NP_000521.2:p.Lys236=
NM_001315491.1:c.708G>A	NP_001302420.1:p.Lys236=
XM_017001321.2:c.675+193G>A	XP_016856810.1:n.675+193G>A
NM_000530.8:c.708G>A MANE Select	NP_000521.2:p.Lys236=
NM_001315491.2:c.708G>A	NP_001302420.1:p.Lys236=