Canonical Allele Identifier: CA257150

Gene: MPZ

Linked Data

• ClinVar Variation Id: 14174
• ClinVar RCV Id: RCV000015237 ; RCV000638160 ; RCV000790115 ; RCV001811142 ; RCV002433456
• dbSNP Id: rs121913589
• MyVariant Identifiers: chr1:g.161276653C>G (hg19) ; chr1:g.161306863C>G (hg38)
• PubMed: PMID:7688964 ; PMID:8644725

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306863C>G , CM000663.2:g.161306863C>G	GRCh38
NC_000001.10:g.161276653C>G , CM000663.1:g.161276653C>G	GRCh37
NC_000001.9:g.159543277C>G	NCBI36
NG_008055.1:g.8110G>C , LRG_256:g.8110G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.293G>C	ENSP00000488104.2:p.Arg98Pro
ENST00000533357.5:c.293G>C MANE Select	ENSP00000432943.1:p.Arg98Pro
ENST00000672287.2:c.-296G>C	ENSP00000499818.2:n.-296G>C
ENST00000672602.2:c.293G>C	ENSP00000500814.2:p.Arg98Pro
ENST00000674861.1:n.356G>C
ENST00000463290.5:c.293G>C	ENSP00000431538.1:p.Arg98Pro
ENST00000491222.5:c.-296G>C	ENSP00000431441.1:n.-296G>C
ENST00000526189.2:c.37G>C
ENST00000533357.4:c.293G>C	ENSP00000432943.1:p.Arg98Pro
NM_000530.6:c.293G>C , LRG_256t1:c.293G>C	NP_000521.2:p.Arg98Pro
NM_000530.7:c.293G>C	NP_000521.2:p.Arg98Pro
NM_001315491.1:c.293G>C	NP_001302420.1:p.Arg98Pro
XM_017001321.2:c.323G>C	XP_016856810.1:p.Arg108Pro
NM_000530.8:c.293G>C MANE Select	NP_000521.2:p.Arg98Pro
NM_001315491.2:c.293G>C	NP_001302420.1:p.Arg98Pro