Canonical Allele Identifier: CA1210064

Gene: MPZ

Linked Data

• ClinVar Variation Id: 447734
• ClinVar RCV Id: RCV000517719 ; RCV000819196 ; RCV000789487 ; RCV000845000 ; RCV002367719 ; RCV003147499
• dbSNP Id: rs755446743
• ExAC: 1:161275704 CCTT / C
• gnomAD v2: 1-161275704-CCTT-C
• gnomAD v3: 1-161305914-CCTT-C
• gnomAD v4: 1-161305914-CCTT-C
• MyVariant Identifiers: chr1:g.161275705_161275707del (hg19) ; chr1:g.161305915_161305917del (hg38)
• PubMed: PMID:12207932 ; PMID:15716547

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305920_161305922del , CM000663.2:g.161305920_161305922del	GRCh38
NC_000001.10:g.161275710_161275712del , CM000663.1:g.161275710_161275712del	GRCh37
NC_000001.9:g.159542334_159542336del	NCBI36
NG_008055.1:g.9056_9058del , LRG_256:g.9056_9058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.625_627del	ENSP00000488104.2:p.Lys209del
ENST00000533357.5:c.706_708del MANE Select	ENSP00000432943.1:p.Lys236del
ENST00000672287.2:c.118_120del	ENSP00000499818.2:p.Lys40del
ENST00000672602.2:c.706_708del	ENSP00000500814.2:p.Lys236del
ENST00000674861.1:n.769_771del
ENST00000463290.5:c.706_708del	ENSP00000431538.1:p.Lys236del
ENST00000476410.1:n.296_298del
ENST00000488271.1:n.144_146del
ENST00000491222.5:c.118_120del	ENSP00000431441.1:p.Lys40del
ENST00000526189.2:c.369_371del
ENST00000533357.4:c.706_708del	ENSP00000432943.1:p.Lys236del
NM_000530.6:c.706_708del , LRG_256t1:c.706_708del	NP_000521.2:p.Lys236del
NM_000530.7:c.706_708del	NP_000521.2:p.Lys236del
NM_001315491.1:c.706_708del	NP_001302420.1:p.Lys236del
XM_017001321.2:c.675+191_675+193del	XP_016856810.1:n.675+191_675+193del
NM_000530.8:c.706_708del MANE Select	NP_000521.2:p.Lys236del
NM_001315491.2:c.706_708del	NP_001302420.1:p.Lys236del