Canonical Allele Identifier: CA16609896

Gene: MPZ

Linked Data

• ClinVar Variation Id: 411669
• ClinVar RCV Id: RCV000470689 ; RCV000789070 ; RCV001289097 ; RCV004533201
• dbSNP Id: rs121913601
• MyVariant Identifiers: chr1:g.161277049G>C (hg19) ; chr1:g.161307259G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307259G>C , CM000663.2:g.161307259G>C	GRCh38
NC_000001.10:g.161277049G>C , CM000663.1:g.161277049G>C	GRCh37
NC_000001.9:g.159543673G>C	NCBI36
NG_008055.1:g.7714C>G , LRG_256:g.7714C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.233C>G	ENSP00000488104.2:p.Ser78Trp
ENST00000533357.5:c.233C>G MANE Select	ENSP00000432943.1:p.Ser78Trp
ENST00000672287.2:c.-356C>G	ENSP00000499818.2:n.-356C>G
ENST00000672602.2:c.233C>G	ENSP00000500814.2:p.Ser78Trp
ENST00000674861.1:n.296C>G
ENST00000463290.5:c.233C>G	ENSP00000431538.1:p.Ser78Trp
ENST00000491222.5:c.-356C>G	ENSP00000431441.1:n.-356C>G
ENST00000533357.4:c.233C>G	ENSP00000432943.1:p.Ser78Trp
NM_000530.6:c.233C>G , LRG_256t1:c.233C>G	NP_000521.2:p.Ser78Trp
NM_000530.7:c.233C>G	NP_000521.2:p.Ser78Trp
NM_001315491.1:c.233C>G	NP_001302420.1:p.Ser78Trp
XM_017001321.2:c.263C>G	XP_016856810.1:p.Ser88Trp
NM_000530.8:c.233C>G MANE Select	NP_000521.2:p.Ser78Trp
NM_001315491.2:c.233C>G	NP_001302420.1:p.Ser78Trp