Canonical Allele Identifier: CA1210078

Gene: MPZ

Linked Data

• ClinVar Variation Id: 704206
• ClinVar RCV Id: RCV000874157
• dbSNP Id: rs377495735
• ExAC: 1:161275774 G / A
• gnomAD v2: 1-161275774-G-A
• gnomAD v3: 1-161305984-G-A
• gnomAD v4: 1-161305984-G-A
• MyVariant Identifiers: chr1:g.161275774G>A (hg19) ; chr1:g.161305984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305984G>A , CM000663.2:g.161305984G>A	GRCh38
NC_000001.10:g.161275774G>A , CM000663.1:g.161275774G>A	GRCh37
NC_000001.9:g.159542398G>A	NCBI36
NG_008055.1:g.8989C>T , LRG_256:g.8989C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.565-7C>T	ENSP00000488104.2:n.565-7C>T
ENST00000533357.5:c.646-7C>T MANE Select	ENSP00000432943.1:n.646-7C>T
ENST00000672287.2:c.58-7C>T	ENSP00000499818.2:n.58-7C>T
ENST00000672602.2:c.646-7C>T	ENSP00000500814.2:n.646-7C>T
ENST00000674861.1:n.709-7C>T
ENST00000463290.5:c.646-7C>T	ENSP00000431538.1:n.646-7C>T
ENST00000476410.1:n.229C>T
ENST00000488271.1:n.84-7C>T
ENST00000491222.5:c.58-7C>T	ENSP00000431441.1:n.58-7C>T
ENST00000526189.2:c.309-7C>T
ENST00000533357.4:c.646-7C>T	ENSP00000432943.1:n.646-7C>T
NM_000530.6:c.646-7C>T , LRG_256t1:c.646-7C>T	NP_000521.2:n.646-7C>T
NM_000530.7:c.646-7C>T	NP_000521.2:n.646-7C>T
NM_001315491.1:c.646-7C>T	NP_001302420.1:n.646-7C>T
XM_017001321.2:c.675+124C>T	XP_016856810.1:n.675+124C>T
NM_000530.8:c.646-7C>T MANE Select	NP_000521.2:n.646-7C>T
NM_001315491.2:c.646-7C>T	NP_001302420.1:n.646-7C>T