Canonical Allele Identifier: CA10741081

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161309728T>C , CM000663.2:g.161309728T>C	GRCh38
NC_000001.10:g.161279518T>C , CM000663.1:g.161279518T>C	GRCh37
NC_000001.9:g.159546142T>C	NCBI36
NG_008055.1:g.5245A>G , LRG_256:g.5245A>G
NG_012767.1:g.353T>C , LRG_317:g.353T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000530.8:c.67+111A>G MANE Select	NP_000521.2:n.67+111A>G
ENST00000533357.5:c.67+111A>G MANE Select	ENSP00000432943.1:n.67+111A>G
NM_000530.6:c.67+111A>G , LRG_256t1:c.67+111A>G	NP_000521.2:n.67+111A>G
NM_000530.7:c.67+111A>G	NP_000521.2:n.67+111A>G
NM_001315491.1:c.67+111A>G	NP_001302420.1:n.67+111A>G
NM_001315491.2:c.67+111A>G	NP_001302420.1:n.67+111A>G
ENST00000463290.5:c.67+111A>G	ENSP00000431538.1:n.67+111A>G
ENST00000526189.3:c.67+111A>G	ENSP00000488104.2:n.67+111A>G
ENST00000533357.4:c.67+111A>G	ENSP00000432943.1:n.67+111A>G
ENST00000672602.2:c.67+111A>G	ENSP00000500814.2:n.67+111A>G
ENST00000674861.1:n.130+111A>G
XM_017001321.2:c.97+111A>G	XP_016856810.1:n.97+111A>G