Canonical Allele Identifier: CA658795555

Gene: MPZ

Linked Data

• ClinVar Variation Id: 531677
• ClinVar RCV Id: RCV000638153 ; RCV000790074 ; RCV001289099 ; RCV002528900 ; RCV003420112 ; RCV003483698
• dbSNP Id: rs1553259643
• MyVariant Identifiers: chr1:g.161276509_161276512del (hg19) ; chr1:g.161306719_161306722del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306722_161306725del , CM000663.2:g.161306722_161306725del	GRCh38
NC_000001.10:g.161276512_161276515del , CM000663.1:g.161276512_161276515del	GRCh37
NC_000001.9:g.159543136_159543139del	NCBI36
NG_008055.1:g.8251_8254del , LRG_256:g.8251_8254del

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+67_367+70del	ENSP00000488104.2:n.367+67_367+70del
ENST00000533357.5:c.434_437del MANE Select	ENSP00000432943.1:p.Tyr145SerfsTer16
ENST00000672287.2:c.-155_-152del	ENSP00000499818.2:n.-155_-152del
ENST00000672602.2:c.434_437del	ENSP00000500814.2:p.Tyr145SerfsTer16
ENST00000674861.1:n.497_500del
ENST00000463290.5:c.434_437del	ENSP00000431538.1:p.Tyr145SerfsTer16
ENST00000491222.5:c.-155_-152del	ENSP00000431441.1:n.-155_-152del
ENST00000526189.2:c.111+67_111+70del
ENST00000533357.4:c.434_437del	ENSP00000432943.1:p.Tyr145SerfsTer16
NM_000530.6:c.434_437del , LRG_256t1:c.434_437del	NP_000521.2:p.Tyr145SerfsTer16
NM_000530.7:c.434_437del	NP_000521.2:p.Tyr145SerfsTer16
NM_001315491.1:c.434_437del	NP_001302420.1:p.Tyr145SerfsTer16
XM_017001321.2:c.464_467del	XP_016856810.1:p.Tyr155SerfsTer16
NM_000530.8:c.434_437del MANE Select	NP_000521.2:p.Tyr145SerfsTer16
NM_001315491.2:c.434_437del	NP_001302420.1:p.Tyr145SerfsTer16