Canonical Allele Identifier: CA10584142

Gene: MPZ

Linked Data

• ClinVar Variation Id: 246029
• ClinVar RCV Id: RCV000015261 ; RCV000235519 ; RCV000790116
• dbSNP Id: rs879254054
• MyVariant Identifiers: chr1:g.161276117A>C (hg19) ; chr1:g.161306327A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306327A>C , CM000663.2:g.161306327A>C	GRCh38
NC_000001.10:g.161276117A>C , CM000663.1:g.161276117A>C	GRCh37
NC_000001.9:g.159542741A>C	NCBI36
NG_008055.1:g.8646T>G , LRG_256:g.8646T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.503+2T>G	ENSP00000488104.2:n.503+2T>G
ENST00000533357.5:c.584+2T>G MANE Select	ENSP00000432943.1:n.584+2T>G
ENST00000672287.2:c.-5+2T>G	ENSP00000499818.2:n.-5+2T>G
ENST00000672602.2:c.584+2T>G	ENSP00000500814.2:n.584+2T>G
ENST00000674861.1:n.647+2T>G
ENST00000463290.5:c.584+2T>G	ENSP00000431538.1:n.584+2T>G
ENST00000476410.1:n.44+2T>G
ENST00000491222.5:c.-5+2T>G	ENSP00000431441.1:n.-5+2T>G
ENST00000526189.2:c.247+2T>G
ENST00000533357.4:c.584+2T>G	ENSP00000432943.1:n.584+2T>G
NM_000530.6:c.584+2T>G , LRG_256t1:c.584+2T>G	NP_000521.2:n.584+2T>G
NM_000530.7:c.584+2T>G	NP_000521.2:n.584+2T>G
NM_001315491.1:c.584+2T>G	NP_001302420.1:n.584+2T>G
XM_017001321.2:c.614+2T>G	XP_016856810.1:n.614+2T>G
NM_000530.8:c.584+2T>G MANE Select	NP_000521.2:n.584+2T>G
NM_001315491.2:c.584+2T>G	NP_001302420.1:n.584+2T>G