Canonical Allele Identifier: CA343349847

Gene: MPZ

Linked Data

• ClinVar Variation Id: 531681
• ClinVar RCV Id: RCV000638158
• dbSNP Id: rs1553259700
• COSMIC: COSM5745740 ; COSM5745741
• MyVariant Identifiers: chr1:g.161276683T>C (hg19) ; chr1:g.161306893T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306893T>C , CM000663.2:g.161306893T>C	GRCh38
NC_000001.10:g.161276683T>C , CM000663.1:g.161276683T>C	GRCh37
NC_000001.9:g.159543307T>C	NCBI36
NG_008055.1:g.8080A>G , LRG_256:g.8080A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.263A>G	ENSP00000488104.2:p.Tyr88Cys
ENST00000533357.5:c.263A>G MANE Select	ENSP00000432943.1:p.Tyr88Cys
ENST00000672287.2:c.-326A>G	ENSP00000499818.2:n.-326A>G
ENST00000672602.2:c.263A>G	ENSP00000500814.2:p.Tyr88Cys
ENST00000674861.1:n.326A>G
ENST00000463290.5:c.263A>G	ENSP00000431538.1:p.Tyr88Cys
ENST00000491222.5:c.-326A>G	ENSP00000431441.1:n.-326A>G
ENST00000526189.2:c.7A>G
ENST00000533357.4:c.263A>G	ENSP00000432943.1:p.Tyr88Cys
NM_000530.6:c.263A>G , LRG_256t1:c.263A>G	NP_000521.2:p.Tyr88Cys
NM_000530.7:c.263A>G	NP_000521.2:p.Tyr88Cys
NM_001315491.1:c.263A>G	NP_001302420.1:p.Tyr88Cys
XM_017001321.2:c.293A>G	XP_016856810.1:p.Tyr98Cys
NM_000530.8:c.263A>G MANE Select	NP_000521.2:p.Tyr88Cys
NM_001315491.2:c.263A>G	NP_001302420.1:p.Tyr88Cys