Canonical Allele Identifier: CA343346656

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306465C>G , CM000663.2:g.161306465C>G	GRCh38
NC_000001.10:g.161276255C>G , CM000663.1:g.161276255C>G	GRCh37
NC_000001.9:g.159542879C>G	NCBI36
NG_008055.1:g.8508G>C , LRG_256:g.8508G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000530.8:c.449-1G>C MANE Select	NP_000521.2:n.449-1G>C
ENST00000533357.5:c.449-1G>C MANE Select	ENSP00000432943.1:n.449-1G>C
NM_000530.6:c.449-1G>C , LRG_256t1:c.449-1G>C	NP_000521.2:n.449-1G>C
NM_000530.7:c.449-1G>C	NP_000521.2:n.449-1G>C
NM_001315491.1:c.449-1G>C	NP_001302420.1:n.449-1G>C
NM_001315491.2:c.449-1G>C	NP_001302420.1:n.449-1G>C
ENST00000463290.5:c.449-1G>C	ENSP00000431538.1:n.449-1G>C
ENST00000491222.5:c.-140-1G>C	ENSP00000431441.1:n.-140-1G>C
ENST00000526189.2:c.112-1G>C
ENST00000526189.3:c.368-1G>C	ENSP00000488104.2:n.368-1G>C
ENST00000533357.4:c.449-1G>C	ENSP00000432943.1:n.449-1G>C
ENST00000672287.2:c.-140-1G>C	ENSP00000499818.2:n.-140-1G>C
ENST00000672602.2:c.449-1G>C	ENSP00000500814.2:n.449-1G>C
ENST00000674861.1:n.512-1G>C
XM_017001321.2:c.479-1G>C	XP_016856810.1:n.479-1G>C