Canonical Allele Identifier: CA1202689014

Gene: MPZ

Linked Data

• dbSNP Id: rs1670255249
• gnomAD v4: 1-161306617-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306617C>T , CM000663.2:g.161306617C>T	GRCh38
NC_000001.10:g.161276407C>T , CM000663.1:g.161276407C>T	GRCh37
NC_000001.9:g.159543031C>T	NCBI36
NG_008055.1:g.8356G>A , LRG_256:g.8356G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.368-153G>A	ENSP00000488104.2:n.368-153G>A
ENST00000533357.5:c.448+91G>A MANE Select	ENSP00000432943.1:n.448+91G>A
ENST00000672287.2:c.-141+91G>A	ENSP00000499818.2:n.-141+91G>A
ENST00000672602.2:c.448+91G>A	ENSP00000500814.2:n.448+91G>A
ENST00000674861.1:n.511+91G>A
ENST00000463290.5:c.448+91G>A	ENSP00000431538.1:n.448+91G>A
ENST00000491222.5:c.-141+91G>A	ENSP00000431441.1:n.-141+91G>A
ENST00000526189.2:c.112-153G>A
ENST00000533357.4:c.448+91G>A	ENSP00000432943.1:n.448+91G>A
NM_000530.6:c.448+91G>A , LRG_256t1:c.448+91G>A	NP_000521.2:n.448+91G>A
NM_000530.7:c.448+91G>A	NP_000521.2:n.448+91G>A
NM_001315491.1:c.448+91G>A	NP_001302420.1:n.448+91G>A
XM_017001321.2:c.478+91G>A	XP_016856810.1:n.478+91G>A
NM_000530.8:c.448+91G>A MANE Select	NP_000521.2:n.448+91G>A
NM_001315491.2:c.448+91G>A	NP_001302420.1:n.448+91G>A