Canonical Allele Identifier: CA16043363

Gene: MPZ

Linked Data

• ClinVar Variation Id: 374017
• ClinVar RCV Id: RCV000414872 ; RCV000415393 ; RCV001196260
• dbSNP Id: rs1057518839
• MyVariant Identifiers: chr1:g.161275714A>C (hg19) ; chr1:g.161305924A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305924A>C , CM000663.2:g.161305924A>C	GRCh38
NC_000001.10:g.161275714A>C , CM000663.1:g.161275714A>C	GRCh37
NC_000001.9:g.159542338A>C	NCBI36
NG_008055.1:g.9049T>G , LRG_256:g.9049T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.618T>G	ENSP00000488104.2:p.Ser206Arg
ENST00000533357.5:c.699T>G MANE Select	ENSP00000432943.1:p.Ser233Arg
ENST00000672287.2:c.111T>G	ENSP00000499818.2:p.Ser37Arg
ENST00000672602.2:c.699T>G	ENSP00000500814.2:p.Ser233Arg
ENST00000674861.1:n.762T>G
ENST00000463290.5:c.699T>G	ENSP00000431538.1:p.Ser233Arg
ENST00000476410.1:n.289T>G
ENST00000488271.1:n.137T>G
ENST00000491222.5:c.111T>G	ENSP00000431441.1:p.Ser37Arg
ENST00000526189.2:c.362T>G
ENST00000533357.4:c.699T>G	ENSP00000432943.1:p.Ser233Arg
NM_000530.6:c.699T>G , LRG_256t1:c.699T>G	NP_000521.2:p.Ser233Arg
NM_000530.7:c.699T>G	NP_000521.2:p.Ser233Arg
NM_001315491.1:c.699T>G	NP_001302420.1:p.Ser233Arg
XM_017001321.2:c.675+184T>G	XP_016856810.1:n.675+184T>G
NM_000530.8:c.699T>G MANE Select	NP_000521.2:p.Ser233Arg
NM_001315491.2:c.699T>G	NP_001302420.1:p.Ser233Arg