Canonical Allele Identifier: CA10584144

Gene: MPZ

Linked Data

• ClinVar Variation Id: 245997
• ClinVar RCV Id: RCV000237035 ; RCV000638165 ; RCV000790120 ; RCV004020925
• dbSNP Id: rs879254038
• gnomAD v4: 1-161306800-T-C
• MyVariant Identifiers: chr1:g.161276590T>C (hg19) ; chr1:g.161306800T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306800T>C , CM000663.2:g.161306800T>C	GRCh38
NC_000001.10:g.161276590T>C , CM000663.1:g.161276590T>C	GRCh37
NC_000001.9:g.159543214T>C	NCBI36
NG_008055.1:g.8173A>G , LRG_256:g.8173A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.356A>G	ENSP00000488104.2:p.Tyr119Cys
ENST00000533357.5:c.356A>G MANE Select	ENSP00000432943.1:p.Tyr119Cys
ENST00000672287.2:c.-233A>G	ENSP00000499818.2:n.-233A>G
ENST00000672602.2:c.356A>G	ENSP00000500814.2:p.Tyr119Cys
ENST00000674861.1:n.419A>G
ENST00000463290.5:c.356A>G	ENSP00000431538.1:p.Tyr119Cys
ENST00000491222.5:c.-233A>G	ENSP00000431441.1:n.-233A>G
ENST00000526189.2:c.100A>G
ENST00000533357.4:c.356A>G	ENSP00000432943.1:p.Tyr119Cys
NM_000530.6:c.356A>G , LRG_256t1:c.356A>G	NP_000521.2:p.Tyr119Cys
NM_000530.7:c.356A>G	NP_000521.2:p.Tyr119Cys
NM_001315491.1:c.356A>G	NP_001302420.1:p.Tyr119Cys
XM_017001321.2:c.386A>G	XP_016856810.1:p.Tyr129Cys
NM_000530.8:c.356A>G MANE Select	NP_000521.2:p.Tyr119Cys
NM_001315491.2:c.356A>G	NP_001302420.1:p.Tyr119Cys