Canonical Allele Identifier: CA1210100

Gene: MPZ

Linked Data

• ClinVar Variation Id: 638456
• ClinVar RCV Id: RCV000791124 ; RCV002261203
• dbSNP Id: rs202176679
• ExAC: 1:161275906 C / T
• gnomAD v2: 1-161275906-C-T
• gnomAD v3: 1-161306116-C-T
• gnomAD v4: 1-161306116-C-T
• MyVariant Identifiers: chr1:g.161275906C>T (hg19) ; chr1:g.161306116C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306116C>T , CM000663.2:g.161306116C>T	GRCh38
NC_000001.10:g.161275906C>T , CM000663.1:g.161275906C>T	GRCh37
NC_000001.9:g.159542530C>T	NCBI36
NG_008055.1:g.8857G>A , LRG_256:g.8857G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.556G>A	ENSP00000488104.2:p.Gly186Arg
ENST00000533357.5:c.637G>A MANE Select	ENSP00000432943.1:p.Gly213Arg
ENST00000672287.2:c.49G>A	ENSP00000499818.2:p.Gly17Arg
ENST00000672602.2:c.637G>A	ENSP00000500814.2:p.Gly213Arg
ENST00000674861.1:n.700G>A
ENST00000463290.5:c.637G>A	ENSP00000431538.1:p.Gly213Arg
ENST00000476410.1:n.97G>A
ENST00000488271.1:n.75G>A
ENST00000491222.5:c.49G>A	ENSP00000431441.1:p.Gly17Arg
ENST00000526189.2:c.300G>A
ENST00000533357.4:c.637G>A	ENSP00000432943.1:p.Gly213Arg
NM_000530.6:c.637G>A , LRG_256t1:c.637G>A	NP_000521.2:p.Gly213Arg
NM_000530.7:c.637G>A	NP_000521.2:p.Gly213Arg
NM_001315491.1:c.637G>A	NP_001302420.1:p.Gly213Arg
XM_017001321.2:c.667G>A	XP_016856810.1:p.Gly223Arg
NM_000530.8:c.637G>A MANE Select	NP_000521.2:p.Gly213Arg
NM_001315491.2:c.637G>A	NP_001302420.1:p.Gly213Arg