Canonical Allele Identifier: CA351458

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.[161306427G>C;161306882C>T;161306890A>T] , CM000663.2:g.[161306427G>C;161306882C>T;161306890A>T]	GRCh38
NC_000001.10:g.[161276217G>C;161276672C>T;161276680A>T] , CM000663.1:g.[161276217G>C;161276672C>T;161276680A>T]	GRCh37
NC_000001.9:g.[159542841G>C;159543296C>T;159543304A>T]	NCBI36
NG_008055.1:g.[8083T>A;8091G>A;8546C>G] , LRG_256:g.[8083T>A;8091G>A;8546C>G]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.[266T>A;274G>A;405C>G]	ENSP00000488104.2:p.[Ile89Asn;Val92Met;Ile135Met]
ENST00000533357.5:c.[266T>A;274G>A;486C>G] MANE Select	ENSP00000432943.1:p.[Ile89Asn;Val92Met;Ile162Met]
ENST00000672287.2:c.[-323T>A;-315G>A;-103C>G]	ENSP00000499818.2:n.[-323T>A;-315G>A;-103C>G]
ENST00000672602.2:c.[266T>A;274G>A;486C>G]	ENSP00000500814.2:p.[Ile89Asn;Val92Met;Ile162Met]
ENST00000674861.1:n.[329T>A;337G>A;549C>G]
ENST00000463290.5:c.[266T>A;274G>A;486C>G]	ENSP00000431538.1:p.[Ile89Asn;Val92Met;Ile162Met]
ENST00000491222.5:c.[-323T>A;-315G>A;-103C>G]	ENSP00000431441.1:n.[-323T>A;-315G>A;-103C>G]
ENST00000526189.2:c.[10T>A;18G>A;149C>G]
ENST00000533357.4:c.[266T>A;274G>A;486C>G]	ENSP00000432943.1:p.[Ile89Asn;Val92Met;Ile162Met]
NM_000530.6:c.[266T>A;274G>A;486C>G] , LRG_256t1:c.[266T>A;274G>A;486C>G]	NP_000521.2:p.[Ile89Asn;Val92Met;Ile162Met]
NM_000530.7:c.[266T>A;274G>A;486C>G]	NP_000521.2:p.[Ile89Asn;Val92Met;Ile162Met]
NM_001315491.1:c.[266T>A;274G>A;486C>G]	NP_001302420.1:p.[Ile89Asn;Val92Met;Ile162Met]
XM_017001321.2:c.[296T>A;304G>A;516C>G]	XP_016856810.1:p.[Ile99Asn;Val102Met;Ile172Met]
NM_000530.8:c.[266T>A;274G>A;486C>G] MANE Select	NP_000521.2:p.[Ile89Asn;Val92Met;Ile162Met]
NM_001315491.2:c.[266T>A;274G>A;486C>G]	NP_001302420.1:p.[Ile89Asn;Val92Met;Ile162Met]