Canonical Allele Identifier: CA1210041

Gene: MPZ

Linked Data

• ClinVar Variation Id: 293311
• ClinVar RCV Id: RCV000265390 ; RCV000270677 ; RCV000301779 ; RCV000355341 ; RCV001357532 ; RCV001093826
• dbSNP Id: rs774701563
• ExAC: 1:161275614 C / T
• gnomAD v2: 1-161275614-C-T
• gnomAD v3: 1-161305824-C-T
• gnomAD v4: 1-161305824-C-T
• MyVariant Identifiers: chr1:g.161275614C>T (hg19) ; chr1:g.161305824C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305824C>T , CM000663.2:g.161305824C>T	GRCh38
NC_000001.10:g.161275614C>T , CM000663.1:g.161275614C>T	GRCh37
NC_000001.9:g.159542238C>T	NCBI36
NG_008055.1:g.9149G>A , LRG_256:g.9149G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.*52G>A	ENSP00000488104.2:n.*52G>A
ENST00000533357.5:c.*52G>A MANE Select	ENSP00000432943.1:n.*52G>A
ENST00000672287.2:c.*52G>A	ENSP00000499818.2:n.*52G>A
ENST00000672602.2:c.799G>A	ENSP00000500814.2:p.Gly267Ser
ENST00000674861.1:n.862G>A
ENST00000463290.5:c.*52G>A	ENSP00000431538.1:n.*52G>A
ENST00000476410.1:n.389G>A
ENST00000488271.1:n.237G>A
ENST00000491222.5:c.*52G>A	ENSP00000431441.1:n.*52G>A
ENST00000526189.2:c.462G>A
ENST00000533357.4:c.*52G>A	ENSP00000432943.1:n.*52G>A
NM_000530.6:c.*52G>A , LRG_256t1:c.*52G>A	NP_000521.2:n.*52G>A
NM_000530.7:c.*52G>A	NP_000521.2:n.*52G>A
NM_001315491.1:c.799G>A	NP_001302420.1:p.Gly267Ser
XM_017001321.2:c.675+284G>A	XP_016856810.1:n.675+284G>A
NM_000530.8:c.*52G>A MANE Select	NP_000521.2:n.*52G>A
NM_001315491.2:c.799G>A	NP_001302420.1:p.Gly267Ser