Canonical Allele Identifier: CA421404311

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161275916C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306126C>G , CM000663.2:g.161306126C>G	GRCh38
NC_000001.10:g.161275916C>G , CM000663.1:g.161275916C>G	GRCh37
NC_000001.9:g.159542540C>G	NCBI36
NG_008055.1:g.8847G>C , LRG_256:g.8847G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.546G>C	ENSP00000488104.2:p.Ala182=
ENST00000533357.5:c.627G>C MANE Select	ENSP00000432943.1:p.Ala209=
ENST00000672287.2:c.39G>C	ENSP00000499818.2:p.Ala13=
ENST00000672602.2:c.627G>C	ENSP00000500814.2:p.Ala209=
ENST00000674861.1:n.690G>C
ENST00000463290.5:c.627G>C	ENSP00000431538.1:p.Ala209=
ENST00000476410.1:n.87G>C
ENST00000488271.1:n.65G>C
ENST00000491222.5:c.39G>C	ENSP00000431441.1:p.Ala13=
ENST00000526189.2:c.290G>C
ENST00000533357.4:c.627G>C	ENSP00000432943.1:p.Ala209=
NM_000530.6:c.627G>C , LRG_256t1:c.627G>C	NP_000521.2:p.Ala209=
NM_000530.7:c.627G>C	NP_000521.2:p.Ala209=
NM_001315491.1:c.627G>C	NP_001302420.1:p.Ala209=
XM_017001321.2:c.657G>C	XP_016856810.1:p.Ala219=
NM_000530.8:c.627G>C MANE Select	NP_000521.2:p.Ala209=
NM_001315491.2:c.627G>C	NP_001302420.1:p.Ala209=