Canonical Allele Identifier: CA343348052

Gene: MPZ

Linked Data

• ClinVar Variation Id: 917146
• ClinVar RCV Id: RCV003581779
• dbSNP Id: rs1670257221
• MyVariant Identifiers: chr1:g.161276496A>C (hg19) ; chr1:g.161306706A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306706A>C , CM000663.2:g.161306706A>C	GRCh38
NC_000001.10:g.161276496A>C , CM000663.1:g.161276496A>C	GRCh37
NC_000001.9:g.159543120A>C	NCBI36
NG_008055.1:g.8267T>G , LRG_256:g.8267T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+83T>G	ENSP00000488104.2:n.367+83T>G
ENST00000533357.5:c.448+2T>G MANE Select	ENSP00000432943.1:n.448+2T>G
ENST00000672287.2:c.-141+2T>G	ENSP00000499818.2:n.-141+2T>G
ENST00000672602.2:c.448+2T>G	ENSP00000500814.2:n.448+2T>G
ENST00000674861.1:n.511+2T>G
ENST00000463290.5:c.448+2T>G	ENSP00000431538.1:n.448+2T>G
ENST00000491222.5:c.-141+2T>G	ENSP00000431441.1:n.-141+2T>G
ENST00000526189.2:c.111+83T>G
ENST00000533357.4:c.448+2T>G	ENSP00000432943.1:n.448+2T>G
NM_000530.6:c.448+2T>G , LRG_256t1:c.448+2T>G	NP_000521.2:n.448+2T>G
NM_000530.7:c.448+2T>G	NP_000521.2:n.448+2T>G
NM_001315491.1:c.448+2T>G	NP_001302420.1:n.448+2T>G
XM_017001321.2:c.478+2T>G	XP_016856810.1:n.478+2T>G
NM_000530.8:c.448+2T>G MANE Select	NP_000521.2:n.448+2T>G
NM_001315491.2:c.448+2T>G	NP_001302420.1:n.448+2T>G