Canonical Allele Identifier: CA2746371011
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306702T>C , CM000663.2:g.161306702T>C GRCh38
NC_000001.10:g.161276492T>C , CM000663.1:g.161276492T>C GRCh37
NC_000001.9:g.159543116T>C NCBI36
NG_008055.1:g.8271A>G , LRG_256:g.8271A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000526189.3:c.367+87A>G ENSP00000488104.2:n.367+87A>G
ENST00000533357.5:c.448+6A>G MANE Select ENSP00000432943.1:n.448+6A>G
ENST00000672287.2:c.-141+6A>G ENSP00000499818.2:n.-141+6A>G
ENST00000672602.2:c.448+6A>G ENSP00000500814.2:n.448+6A>G
ENST00000674861.1:n.511+6A>G
ENST00000463290.5:c.448+6A>G ENSP00000431538.1:n.448+6A>G
ENST00000491222.5:c.-141+6A>G ENSP00000431441.1:n.-141+6A>G
ENST00000526189.2:c.111+87A>G
ENST00000533357.4:c.448+6A>G ENSP00000432943.1:n.448+6A>G
NM_000530.6:c.448+6A>G , LRG_256t1:c.448+6A>G NP_000521.2:n.448+6A>G
NM_000530.7:c.448+6A>G NP_000521.2:n.448+6A>G
NM_001315491.1:c.448+6A>G NP_001302420.1:n.448+6A>G
XM_017001321.2:c.478+6A>G XP_016856810.1:n.478+6A>G
NM_000530.8:c.448+6A>G MANE Select NP_000521.2:n.448+6A>G
NM_001315491.2:c.448+6A>G NP_001302420.1:n.448+6A>G