Canonical Allele Identifier: CA16042300

Gene: MPZ

Linked Data

• ClinVar Variation Id: 373619
• ClinVar RCV Id: RCV000413024 ; RCV001067772 ; RCV001662368
• dbSNP Id: rs750756212
• MyVariant Identifiers: chr1:g.161275770G>T (hg19) ; chr1:g.161305980G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305980G>T , CM000663.2:g.161305980G>T	GRCh38
NC_000001.10:g.161275770G>T , CM000663.1:g.161275770G>T	GRCh37
NC_000001.9:g.159542394G>T	NCBI36
NG_008055.1:g.8993C>A , LRG_256:g.8993C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.565-3C>A	ENSP00000488104.2:n.565-3C>A
ENST00000533357.5:c.646-3C>A MANE Select	ENSP00000432943.1:n.646-3C>A
ENST00000672287.2:c.58-3C>A	ENSP00000499818.2:n.58-3C>A
ENST00000672602.2:c.646-3C>A	ENSP00000500814.2:n.646-3C>A
ENST00000674861.1:n.709-3C>A
ENST00000463290.5:c.646-3C>A	ENSP00000431538.1:n.646-3C>A
ENST00000476410.1:n.233C>A
ENST00000488271.1:n.84-3C>A
ENST00000491222.5:c.58-3C>A	ENSP00000431441.1:n.58-3C>A
ENST00000526189.2:c.309-3C>A
ENST00000533357.4:c.646-3C>A	ENSP00000432943.1:n.646-3C>A
NM_000530.6:c.646-3C>A , LRG_256t1:c.646-3C>A	NP_000521.2:n.646-3C>A
NM_000530.7:c.646-3C>A	NP_000521.2:n.646-3C>A
NM_001315491.1:c.646-3C>A	NP_001302420.1:n.646-3C>A
XM_017001321.2:c.675+128C>A	XP_016856810.1:n.675+128C>A
NM_000530.8:c.646-3C>A MANE Select	NP_000521.2:n.646-3C>A
NM_001315491.2:c.646-3C>A	NP_001302420.1:n.646-3C>A