Canonical Allele Identifier: CA343349058

Gene: MPZ

Linked Data

• ClinVar Variation Id: 658150
• ClinVar RCV Id: RCV000814912 ; RCV001353168
• dbSNP Id: rs1571818953
• MyVariant Identifiers: chr1:g.161276584T>C (hg19) ; chr1:g.161306794T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306794T>C , CM000663.2:g.161306794T>C	GRCh38
NC_000001.10:g.161276584T>C , CM000663.1:g.161276584T>C	GRCh37
NC_000001.9:g.159543208T>C	NCBI36
NG_008055.1:g.8179A>G , LRG_256:g.8179A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.362A>G	ENSP00000488104.2:p.Asp121Gly
ENST00000533357.5:c.362A>G MANE Select	ENSP00000432943.1:p.Asp121Gly
ENST00000672287.2:c.-227A>G	ENSP00000499818.2:n.-227A>G
ENST00000672602.2:c.362A>G	ENSP00000500814.2:p.Asp121Gly
ENST00000674861.1:n.425A>G
ENST00000463290.5:c.362A>G	ENSP00000431538.1:p.Asp121Gly
ENST00000491222.5:c.-227A>G	ENSP00000431441.1:n.-227A>G
ENST00000526189.2:c.106A>G
ENST00000533357.4:c.362A>G	ENSP00000432943.1:p.Asp121Gly
NM_000530.6:c.362A>G , LRG_256t1:c.362A>G	NP_000521.2:p.Asp121Gly
NM_000530.7:c.362A>G	NP_000521.2:p.Asp121Gly
NM_001315491.1:c.362A>G	NP_001302420.1:p.Asp121Gly
XM_017001321.2:c.392A>G	XP_016856810.1:p.Asp131Gly
NM_000530.8:c.362A>G MANE Select	NP_000521.2:p.Asp121Gly
NM_001315491.2:c.362A>G	NP_001302420.1:p.Asp121Gly