Canonical Allele Identifier: CA1202688145
Gene: MPZ HGNC NCBI

Linked Data

dbSNP Id: rs1571817402

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306068T>G , CM000663.2:g.161306068T>G GRCh38
NC_000001.10:g.161275858T>G , CM000663.1:g.161275858T>G GRCh37
NC_000001.9:g.159542482T>G NCBI36
NG_008055.1:g.8905A>C , LRG_256:g.8905A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.564+40A>C ENSP00000488104.2:n.564+40A>C
ENST00000533357.5:c.645+40A>C MANE Select ENSP00000432943.1:n.645+40A>C
ENST00000672287.2:c.57+40A>C ENSP00000499818.2:n.57+40A>C
ENST00000672602.2:c.645+40A>C ENSP00000500814.2:n.645+40A>C
ENST00000674861.1:n.708+40A>C
ENST00000463290.5:c.645+40A>C ENSP00000431538.1:n.645+40A>C
ENST00000476410.1:n.145A>C
ENST00000488271.1:n.83+40A>C
ENST00000491222.5:c.57+40A>C ENSP00000431441.1:n.57+40A>C
ENST00000526189.2:c.308+40A>C
ENST00000533357.4:c.645+40A>C ENSP00000432943.1:n.645+40A>C
NM_000530.6:c.645+40A>C , LRG_256t1:c.645+40A>C NP_000521.2:n.645+40A>C
NM_000530.7:c.645+40A>C NP_000521.2:n.645+40A>C
NM_001315491.1:c.645+40A>C NP_001302420.1:n.645+40A>C
XM_017001321.2:c.675+40A>C XP_016856810.1:n.675+40A>C
NM_000530.8:c.645+40A>C MANE Select NP_000521.2:n.645+40A>C
NM_001315491.2:c.645+40A>C NP_001302420.1:n.645+40A>C