Canonical Allele Identifier: CA1210096

Gene: MPZ

Linked Data

• ClinVar Variation Id: 390997
• ClinVar RCV Id: RCV000420483 ; RCV003741187
• dbSNP Id: rs750848798
• ExAC: 1:161275886 A / G
• gnomAD v2: 1-161275886-A-G
• gnomAD v3: 1-161306096-A-G
• gnomAD v4: 1-161306096-A-G
• MyVariant Identifiers: chr1:g.161275886A>G (hg19) ; chr1:g.161306096A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306096A>G , CM000663.2:g.161306096A>G	GRCh38
NC_000001.10:g.161275886A>G , CM000663.1:g.161275886A>G	GRCh37
NC_000001.9:g.159542510A>G	NCBI36
NG_008055.1:g.8877T>C , LRG_256:g.8877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.564+12T>C	ENSP00000488104.2:n.564+12T>C
ENST00000533357.5:c.645+12T>C MANE Select	ENSP00000432943.1:n.645+12T>C
ENST00000672287.2:c.57+12T>C	ENSP00000499818.2:n.57+12T>C
ENST00000672602.2:c.645+12T>C	ENSP00000500814.2:n.645+12T>C
ENST00000674861.1:n.708+12T>C
ENST00000463290.5:c.645+12T>C	ENSP00000431538.1:n.645+12T>C
ENST00000476410.1:n.117T>C
ENST00000488271.1:n.83+12T>C
ENST00000491222.5:c.57+12T>C	ENSP00000431441.1:n.57+12T>C
ENST00000526189.2:c.308+12T>C
ENST00000533357.4:c.645+12T>C	ENSP00000432943.1:n.645+12T>C
NM_000530.6:c.645+12T>C , LRG_256t1:c.645+12T>C	NP_000521.2:n.645+12T>C
NM_000530.7:c.645+12T>C	NP_000521.2:n.645+12T>C
NM_001315491.1:c.645+12T>C	NP_001302420.1:n.645+12T>C
XM_017001321.2:c.675+12T>C	XP_016856810.1:n.675+12T>C
NM_000530.8:c.645+12T>C MANE Select	NP_000521.2:n.645+12T>C
NM_001315491.2:c.645+12T>C	NP_001302420.1:n.645+12T>C