Canonical Allele Identifier: CA343348235

Gene: MPZ

Linked Data

• ClinVar Variation Id: 637781
• ClinVar RCV Id: RCV000790094 ; RCV001233191
• dbSNP Id: rs1571818632
• gnomAD v4: 1-161306721-A-T
• COSMIC: COSM3418229 ; COSM3418230
• MyVariant Identifiers: chr1:g.161276511A>T (hg19) ; chr1:g.161306721A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306721A>T , CM000663.2:g.161306721A>T	GRCh38
NC_000001.10:g.161276511A>T , CM000663.1:g.161276511A>T	GRCh37
NC_000001.9:g.159543135A>T	NCBI36
NG_008055.1:g.8252T>A , LRG_256:g.8252T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+68T>A	ENSP00000488104.2:n.367+68T>A
ENST00000533357.5:c.435T>A MANE Select	ENSP00000432943.1:p.Tyr145Ter
ENST00000672287.2:c.-154T>A	ENSP00000499818.2:n.-154T>A
ENST00000672602.2:c.435T>A	ENSP00000500814.2:p.Tyr145Ter
ENST00000674861.1:n.498T>A
ENST00000463290.5:c.435T>A	ENSP00000431538.1:p.Tyr145Ter
ENST00000491222.5:c.-154T>A	ENSP00000431441.1:n.-154T>A
ENST00000526189.2:c.111+68T>A
ENST00000533357.4:c.435T>A	ENSP00000432943.1:p.Tyr145Ter
NM_000530.6:c.435T>A , LRG_256t1:c.435T>A	NP_000521.2:p.Tyr145Ter
NM_000530.7:c.435T>A	NP_000521.2:p.Tyr145Ter
NM_001315491.1:c.435T>A	NP_001302420.1:p.Tyr145Ter
XM_017001321.2:c.465T>A	XP_016856810.1:p.Tyr155Ter
NM_000530.8:c.435T>A MANE Select	NP_000521.2:p.Tyr145Ter
NM_001315491.2:c.435T>A	NP_001302420.1:p.Tyr145Ter