Canonical Allele Identifier: CA343344365

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305948G>C , CM000663.2:g.161305948G>C	GRCh38
NC_000001.10:g.161275738G>C , CM000663.1:g.161275738G>C	GRCh37
NC_000001.9:g.159542362G>C	NCBI36
NG_008055.1:g.9025C>G , LRG_256:g.9025C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000530.8:c.675C>G MANE Select	NP_000521.2:p.His225Gln
ENST00000533357.5:c.675C>G MANE Select	ENSP00000432943.1:p.His225Gln
NM_000530.6:c.675C>G , LRG_256t1:c.675C>G	NP_000521.2:p.His225Gln
NM_000530.7:c.675C>G	NP_000521.2:p.His225Gln
NM_001315491.1:c.675C>G	NP_001302420.1:p.His225Gln
NM_001315491.2:c.675C>G	NP_001302420.1:p.His225Gln
ENST00000463290.5:c.675C>G	ENSP00000431538.1:p.His225Gln
ENST00000476410.1:n.265C>G
ENST00000488271.1:n.113C>G
ENST00000491222.5:c.87C>G	ENSP00000431441.1:p.His29Gln
ENST00000526189.2:c.338C>G
ENST00000526189.3:c.594C>G	ENSP00000488104.2:p.His198Gln
ENST00000533357.4:c.675C>G	ENSP00000432943.1:p.His225Gln
ENST00000672287.2:c.87C>G	ENSP00000499818.2:p.His29Gln
ENST00000672602.2:c.675C>G	ENSP00000500814.2:p.His225Gln
ENST00000674861.1:n.738C>G
XM_017001321.2:c.675+160C>G	XP_016856810.1:n.675+160C>G