Canonical Allele Identifier: CA343344322

Gene: MPZ

Linked Data

• ClinVar Variation Id: 637330
• ClinVar RCV Id: RCV000789450 ; RCV001093011 ; RCV003152732 ; RCV002535801
• dbSNP Id: rs1571817146
• MyVariant Identifiers: chr1:g.161275732T>A (hg19) ; chr1:g.161305942T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305942T>A , CM000663.2:g.161305942T>A	GRCh38
NC_000001.10:g.161275732T>A , CM000663.1:g.161275732T>A	GRCh37
NC_000001.9:g.159542356T>A	NCBI36
NG_008055.1:g.9031A>T , LRG_256:g.9031A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.600A>T	ENSP00000488104.2:p.Arg200Ser
ENST00000533357.5:c.681A>T MANE Select	ENSP00000432943.1:p.Arg227Ser
ENST00000672287.2:c.93A>T	ENSP00000499818.2:p.Arg31Ser
ENST00000672602.2:c.681A>T	ENSP00000500814.2:p.Arg227Ser
ENST00000674861.1:n.744A>T
ENST00000463290.5:c.681A>T	ENSP00000431538.1:p.Arg227Ser
ENST00000476410.1:n.271A>T
ENST00000488271.1:n.119A>T
ENST00000491222.5:c.93A>T	ENSP00000431441.1:p.Arg31Ser
ENST00000526189.2:c.344A>T
ENST00000533357.4:c.681A>T	ENSP00000432943.1:p.Arg227Ser
NM_000530.6:c.681A>T , LRG_256t1:c.681A>T	NP_000521.2:p.Arg227Ser
NM_000530.7:c.681A>T	NP_000521.2:p.Arg227Ser
NM_001315491.1:c.681A>T	NP_001302420.1:p.Arg227Ser
XM_017001321.2:c.675+166A>T	XP_016856810.1:n.675+166A>T
NM_000530.8:c.681A>T MANE Select	NP_000521.2:p.Arg227Ser
NM_001315491.2:c.681A>T	NP_001302420.1:p.Arg227Ser