Canonical Allele Identifier: CA343909

Gene: MPZ

Linked Data

• ClinVar Variation Id: 41024
• ClinVar RCV Id: RCV000033921 ; RCV000700463 ; RCV000789431 ; RCV002362608
• dbSNP Id: rs267607247
• MyVariant Identifiers: chr1:g.161275743C>A (hg19) ; chr1:g.161305953C>A (hg38)
• PubMed: PMID:20301384

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305953C>A , CM000663.2:g.161305953C>A	GRCh38
NC_000001.10:g.161275743C>A , CM000663.1:g.161275743C>A	GRCh37
NC_000001.9:g.159542367C>A	NCBI36
NG_008055.1:g.9020G>T , LRG_256:g.9020G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.589G>T	ENSP00000488104.2:p.Asp197Tyr
ENST00000533357.5:c.670G>T MANE Select	ENSP00000432943.1:p.Asp224Tyr
ENST00000672287.2:c.82G>T	ENSP00000499818.2:p.Asp28Tyr
ENST00000672602.2:c.670G>T	ENSP00000500814.2:p.Asp224Tyr
ENST00000674861.1:n.733G>T
ENST00000463290.5:c.670G>T	ENSP00000431538.1:p.Asp224Tyr
ENST00000476410.1:n.260G>T
ENST00000488271.1:n.108G>T
ENST00000491222.5:c.82G>T	ENSP00000431441.1:p.Asp28Tyr
ENST00000526189.2:c.333G>T
ENST00000533357.4:c.670G>T	ENSP00000432943.1:p.Asp224Tyr
NM_000530.6:c.670G>T , LRG_256t1:c.670G>T	NP_000521.2:p.Asp224Tyr
NM_000530.7:c.670G>T	NP_000521.2:p.Asp224Tyr
NM_001315491.1:c.670G>T	NP_001302420.1:p.Asp224Tyr
XM_017001321.2:c.675+155G>T	XP_016856810.1:n.675+155G>T
NM_000530.8:c.670G>T MANE Select	NP_000521.2:p.Asp224Tyr
NM_001315491.2:c.670G>T	NP_001302420.1:p.Asp224Tyr