Canonical Allele Identifier: CA343344720

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161275917G>C (hg19) ; chr1:g.161306127G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306127G>C , CM000663.2:g.161306127G>C	GRCh38
NC_000001.10:g.161275917G>C , CM000663.1:g.161275917G>C	GRCh37
NC_000001.9:g.159542541G>C	NCBI36
NG_008055.1:g.8846C>G , LRG_256:g.8846C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.545C>G	ENSP00000488104.2:p.Ala182Gly
ENST00000533357.5:c.626C>G MANE Select	ENSP00000432943.1:p.Ala209Gly
ENST00000672287.2:c.38C>G	ENSP00000499818.2:p.Ala13Gly
ENST00000672602.2:c.626C>G	ENSP00000500814.2:p.Ala209Gly
ENST00000674861.1:n.689C>G
ENST00000463290.5:c.626C>G	ENSP00000431538.1:p.Ala209Gly
ENST00000476410.1:n.86C>G
ENST00000488271.1:n.64C>G
ENST00000491222.5:c.38C>G	ENSP00000431441.1:p.Ala13Gly
ENST00000526189.2:c.289C>G
ENST00000533357.4:c.626C>G	ENSP00000432943.1:p.Ala209Gly
NM_000530.6:c.626C>G , LRG_256t1:c.626C>G	NP_000521.2:p.Ala209Gly
NM_000530.7:c.626C>G	NP_000521.2:p.Ala209Gly
NM_001315491.1:c.626C>G	NP_001302420.1:p.Ala209Gly
XM_017001321.2:c.656C>G	XP_016856810.1:p.Ala219Gly
NM_000530.8:c.626C>G MANE Select	NP_000521.2:p.Ala209Gly
NM_001315491.2:c.626C>G	NP_001302420.1:p.Ala209Gly