Canonical Allele Identifier: CA343348711

Gene: MPZ

Linked Data

• ClinVar Variation Id: 578468
• ClinVar RCV Id: RCV000701482
• dbSNP Id: rs1553259648
• MyVariant Identifiers: chr1:g.161276549G>C (hg19) ; chr1:g.161306759G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306759G>C , CM000663.2:g.161306759G>C	GRCh38
NC_000001.10:g.161276549G>C , CM000663.1:g.161276549G>C	GRCh37
NC_000001.9:g.159543173G>C	NCBI36
NG_008055.1:g.8214C>G , LRG_256:g.8214C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+30C>G	ENSP00000488104.2:n.367+30C>G
ENST00000533357.5:c.397C>G MANE Select	ENSP00000432943.1:p.Pro133Ala
ENST00000672287.2:c.-192C>G	ENSP00000499818.2:n.-192C>G
ENST00000672602.2:c.397C>G	ENSP00000500814.2:p.Pro133Ala
ENST00000674861.1:n.460C>G
ENST00000463290.5:c.397C>G	ENSP00000431538.1:p.Pro133Ala
ENST00000491222.5:c.-192C>G	ENSP00000431441.1:n.-192C>G
ENST00000526189.2:c.111+30C>G
ENST00000533357.4:c.397C>G	ENSP00000432943.1:p.Pro133Ala
NM_000530.6:c.397C>G , LRG_256t1:c.397C>G	NP_000521.2:p.Pro133Ala
NM_000530.7:c.397C>G	NP_000521.2:p.Pro133Ala
NM_001315491.1:c.397C>G	NP_001302420.1:p.Pro133Ala
XM_017001321.2:c.427C>G	XP_016856810.1:p.Pro143Ala
NM_000530.8:c.397C>G MANE Select	NP_000521.2:p.Pro133Ala
NM_001315491.2:c.397C>G	NP_001302420.1:p.Pro133Ala