Canonical Allele Identifier: CA343343929

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161275694A>C (hg19) ; chr1:g.161305904A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305904A>C , CM000663.2:g.161305904A>C	GRCh38
NC_000001.10:g.161275694A>C , CM000663.1:g.161275694A>C	GRCh37
NC_000001.9:g.159542318A>C	NCBI36
NG_008055.1:g.9069T>G , LRG_256:g.9069T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.638T>G	ENSP00000488104.2:p.Leu213Arg
ENST00000533357.5:c.719T>G MANE Select	ENSP00000432943.1:p.Leu240Arg
ENST00000672287.2:c.131T>G	ENSP00000499818.2:p.Leu44Arg
ENST00000672602.2:c.719T>G	ENSP00000500814.2:p.Leu240Arg
ENST00000674861.1:n.782T>G
ENST00000463290.5:c.719T>G	ENSP00000431538.1:p.Leu240Arg
ENST00000476410.1:n.309T>G
ENST00000488271.1:n.157T>G
ENST00000491222.5:c.131T>G	ENSP00000431441.1:p.Leu44Arg
ENST00000526189.2:c.382T>G
ENST00000533357.4:c.719T>G	ENSP00000432943.1:p.Leu240Arg
NM_000530.6:c.719T>G , LRG_256t1:c.719T>G	NP_000521.2:p.Leu240Arg
NM_000530.7:c.719T>G	NP_000521.2:p.Leu240Arg
NM_001315491.1:c.719T>G	NP_001302420.1:p.Leu240Arg
XM_017001321.2:c.675+204T>G	XP_016856810.1:n.675+204T>G
NM_000530.8:c.719T>G MANE Select	NP_000521.2:p.Leu240Arg
NM_001315491.2:c.719T>G	NP_001302420.1:p.Leu240Arg