Canonical Allele Identifier: CA421405055

Gene: MPZ

Linked Data

• gnomAD v4: 1-161306721-A-G
• MyVariant Identifiers: chr1:g.161276511A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306721A>G , CM000663.2:g.161306721A>G	GRCh38
NC_000001.10:g.161276511A>G , CM000663.1:g.161276511A>G	GRCh37
NC_000001.9:g.159543135A>G	NCBI36
NG_008055.1:g.8252T>C , LRG_256:g.8252T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+68T>C	ENSP00000488104.2:n.367+68T>C
ENST00000533357.5:c.435T>C MANE Select	ENSP00000432943.1:p.Tyr145=
ENST00000672287.2:c.-154T>C	ENSP00000499818.2:n.-154T>C
ENST00000672602.2:c.435T>C	ENSP00000500814.2:p.Tyr145=
ENST00000674861.1:n.498T>C
ENST00000463290.5:c.435T>C	ENSP00000431538.1:p.Tyr145=
ENST00000491222.5:c.-154T>C	ENSP00000431441.1:n.-154T>C
ENST00000526189.2:c.111+68T>C
ENST00000533357.4:c.435T>C	ENSP00000432943.1:p.Tyr145=
NM_000530.6:c.435T>C , LRG_256t1:c.435T>C	NP_000521.2:p.Tyr145=
NM_000530.7:c.435T>C	NP_000521.2:p.Tyr145=
NM_001315491.1:c.435T>C	NP_001302420.1:p.Tyr145=
XM_017001321.2:c.465T>C	XP_016856810.1:p.Tyr155=
NM_000530.8:c.435T>C MANE Select	NP_000521.2:p.Tyr145=
NM_001315491.2:c.435T>C	NP_001302420.1:p.Tyr145=