Canonical Allele Identifier: CA250638

Gene: MPZ

Linked Data

• ClinVar Variation Id: 14183
• ClinVar RCV Id: RCV000015247 ; RCV000638171 ; RCV001173698 ; RCV001552371
• dbSNP Id: rs121913596
• MyVariant Identifiers: chr1:g.161277179C>A (hg19) ; chr1:g.161307389C>A (hg38)
• PubMed: PMID:10406984

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307389C>A , CM000663.2:g.161307389C>A	GRCh38
NC_000001.10:g.161277179C>A , CM000663.1:g.161277179C>A	GRCh37
NC_000001.9:g.159543803C>A	NCBI36
NG_008055.1:g.7584G>T , LRG_256:g.7584G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.103G>T	ENSP00000488104.2:p.Asp35Tyr
ENST00000533357.5:c.103G>T MANE Select	ENSP00000432943.1:p.Asp35Tyr
ENST00000672287.2:c.-486G>T	ENSP00000499818.2:n.-486G>T
ENST00000672602.2:c.103G>T	ENSP00000500814.2:p.Asp35Tyr
ENST00000674861.1:n.166G>T
ENST00000463290.5:c.103G>T	ENSP00000431538.1:p.Asp35Tyr
ENST00000491222.5:c.-486G>T	ENSP00000431441.1:n.-486G>T
ENST00000533357.4:c.103G>T	ENSP00000432943.1:p.Asp35Tyr
NM_000530.6:c.103G>T , LRG_256t1:c.103G>T	NP_000521.2:p.Asp35Tyr
NM_000530.7:c.103G>T	NP_000521.2:p.Asp35Tyr
NM_001315491.1:c.103G>T	NP_001302420.1:p.Asp35Tyr
XM_017001321.2:c.133G>T	XP_016856810.1:p.Asp45Tyr
NM_000530.8:c.103G>T MANE Select	NP_000521.2:p.Asp35Tyr
NM_001315491.2:c.103G>T	NP_001302420.1:p.Asp35Tyr