Canonical Allele Identifier: CA1210080

Gene: MPZ

Linked Data

• ClinVar Variation Id: 1294157
• ClinVar RCV Id: RCV001718492
• dbSNP Id: rs61458643
• ExAC: 1:161275796 C / G
• gnomAD v2: 1-161275796-C-G
• gnomAD v3: 1-161306006-C-G
• gnomAD v4: 1-161306006-C-G
• MyVariant Identifiers: chr1:g.161275796C>G (hg19) ; chr1:g.161306006C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306006C>G , CM000663.2:g.161306006C>G	GRCh38
NC_000001.10:g.161275796C>G , CM000663.1:g.161275796C>G	GRCh37
NC_000001.9:g.159542420C>G	NCBI36
NG_008055.1:g.8967G>C , LRG_256:g.8967G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.565-29G>C	ENSP00000488104.2:n.565-29G>C
ENST00000533357.5:c.646-29G>C MANE Select	ENSP00000432943.1:n.646-29G>C
ENST00000672287.2:c.58-29G>C	ENSP00000499818.2:n.58-29G>C
ENST00000672602.2:c.646-29G>C	ENSP00000500814.2:n.646-29G>C
ENST00000674861.1:n.709-29G>C
ENST00000463290.5:c.646-29G>C	ENSP00000431538.1:n.646-29G>C
ENST00000476410.1:n.207G>C
ENST00000488271.1:n.84-29G>C
ENST00000491222.5:c.58-29G>C	ENSP00000431441.1:n.58-29G>C
ENST00000526189.2:c.309-29G>C
ENST00000533357.4:c.646-29G>C	ENSP00000432943.1:n.646-29G>C
NM_000530.6:c.646-29G>C , LRG_256t1:c.646-29G>C	NP_000521.2:n.646-29G>C
NM_000530.7:c.646-29G>C	NP_000521.2:n.646-29G>C
NM_001315491.1:c.646-29G>C	NP_001302420.1:n.646-29G>C
XM_017001321.2:c.675+102G>C	XP_016856810.1:n.675+102G>C
NM_000530.8:c.646-29G>C MANE Select	NP_000521.2:n.646-29G>C
NM_001315491.2:c.646-29G>C	NP_001302420.1:n.646-29G>C