Canonical Allele Identifier: CA1008408963

Gene: MPZ

Linked Data

• dbSNP Id: rs1670256674
• gnomAD v3: 1-161306679-C-CAT
• gnomAD v4: 1-161306679-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306681_161306682dup , CM000663.2:g.161306681_161306682dup	GRCh38
NC_000001.10:g.161276471_161276472dup , CM000663.1:g.161276471_161276472dup	GRCh37
NC_000001.9:g.159543095_159543096dup	NCBI36
NG_008055.1:g.8292_8293dup , LRG_256:g.8292_8293dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+108_367+109dup	ENSP00000488104.2:n.367+108_367+109dup
ENST00000533357.5:c.448+27_448+28dup MANE Select	ENSP00000432943.1:n.448+27_448+28dup
ENST00000672287.2:c.-141+27_-141+28dup	ENSP00000499818.2:n.-141+27_-141+28dup
ENST00000672602.2:c.448+27_448+28dup	ENSP00000500814.2:n.448+27_448+28dup
ENST00000674861.1:n.511+27_511+28dup
ENST00000463290.5:c.448+27_448+28dup	ENSP00000431538.1:n.448+27_448+28dup
ENST00000491222.5:c.-141+27_-141+28dup	ENSP00000431441.1:n.-141+27_-141+28dup
ENST00000526189.2:c.111+108_111+109dup
ENST00000533357.4:c.448+27_448+28dup	ENSP00000432943.1:n.448+27_448+28dup
NM_000530.6:c.448+27_448+28dup , LRG_256t1:c.448+27_448+28dup	NP_000521.2:n.448+27_448+28dup
NM_000530.7:c.448+27_448+28dup	NP_000521.2:n.448+27_448+28dup
NM_001315491.1:c.448+27_448+28dup	NP_001302420.1:n.448+27_448+28dup
XM_017001321.2:c.478+27_478+28dup	XP_016856810.1:n.478+27_478+28dup
NM_000530.8:c.448+27_448+28dup MANE Select	NP_000521.2:n.448+27_448+28dup
NM_001315491.2:c.448+27_448+28dup	NP_001302420.1:n.448+27_448+28dup