Canonical Allele Identifier: CA421404308

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161275913C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306123C>G , CM000663.2:g.161306123C>G	GRCh38
NC_000001.10:g.161275913C>G , CM000663.1:g.161275913C>G	GRCh37
NC_000001.9:g.159542537C>G	NCBI36
NG_008055.1:g.8850G>C , LRG_256:g.8850G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.549G>C	ENSP00000488104.2:p.Ser183=
ENST00000533357.5:c.630G>C MANE Select	ENSP00000432943.1:p.Ser210=
ENST00000672287.2:c.42G>C	ENSP00000499818.2:p.Ser14=
ENST00000672602.2:c.630G>C	ENSP00000500814.2:p.Ser210=
ENST00000674861.1:n.693G>C
ENST00000463290.5:c.630G>C	ENSP00000431538.1:p.Ser210=
ENST00000476410.1:n.90G>C
ENST00000488271.1:n.68G>C
ENST00000491222.5:c.42G>C	ENSP00000431441.1:p.Ser14=
ENST00000526189.2:c.293G>C
ENST00000533357.4:c.630G>C	ENSP00000432943.1:p.Ser210=
NM_000530.6:c.630G>C , LRG_256t1:c.630G>C	NP_000521.2:p.Ser210=
NM_000530.7:c.630G>C	NP_000521.2:p.Ser210=
NM_001315491.1:c.630G>C	NP_001302420.1:p.Ser210=
XM_017001321.2:c.660G>C	XP_016856810.1:p.Ser220=
NM_000530.8:c.630G>C MANE Select	NP_000521.2:p.Ser210=
NM_001315491.2:c.630G>C	NP_001302420.1:p.Ser210=