Canonical Allele Identifier: CA16617015

Gene: MPZ

Linked Data

• ClinVar Variation Id: 422079
• ClinVar RCV Id: RCV000482306
• dbSNP Id: rs1553259792
• MyVariant Identifiers: chr1:g.161277131_161277133dupAGC (hg19) ; chr1:g.161277130_161277131insAGC (hg19) ; chr1:g.161307341_161307343dupAGC (hg38) ; chr1:g.161307340_161307341insAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307343_161307345dup , CM000663.2:g.161307343_161307345dup	GRCh38
NC_000001.10:g.161277133_161277135dup , CM000663.1:g.161277133_161277135dup	GRCh37
NC_000001.9:g.159543757_159543759dup	NCBI36
NG_008055.1:g.7630_7632dup , LRG_256:g.7630_7632dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.149_151dup	ENSP00000488104.2:p.Cys50_Ser51insCys
ENST00000533357.5:c.149_151dup MANE Select	ENSP00000432943.1:p.Cys50_Ser51insCys
ENST00000672287.2:c.-440_-438dup	ENSP00000499818.2:n.-440_-438dup
ENST00000672602.2:c.149_151dup	ENSP00000500814.2:p.Cys50_Ser51insCys
ENST00000674861.1:n.212_214dup
ENST00000463290.5:c.149_151dup	ENSP00000431538.1:p.Cys50_Ser51insCys
ENST00000491222.5:c.-440_-438dup	ENSP00000431441.1:n.-440_-438dup
ENST00000533357.4:c.149_151dup	ENSP00000432943.1:p.Cys50_Ser51insCys
NM_000530.6:c.149_151dup , LRG_256t1:c.149_151dup	NP_000521.2:p.Cys50_Ser51insCys
NM_000530.7:c.149_151dup	NP_000521.2:p.Cys50_Ser51insCys
NM_001315491.1:c.149_151dup	NP_001302420.1:p.Cys50_Ser51insCys
XM_017001321.2:c.179_181dup	XP_016856810.1:p.Cys60_Ser61insCys
NM_000530.8:c.149_151dup MANE Select	NP_000521.2:p.Cys50_Ser51insCys
NM_001315491.2:c.149_151dup	NP_001302420.1:p.Cys50_Ser51insCys