Canonical Allele Identifier: CA343344231

Gene: MPZ

Linked Data

• ClinVar Variation Id: 546614
• ClinVar RCV Id: RCV000658531
• dbSNP Id: rs1471261466
• MyVariant Identifiers: chr1:g.161275722C>G (hg19) ; chr1:g.161305932C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305932C>G , CM000663.2:g.161305932C>G	GRCh38
NC_000001.10:g.161275722C>G , CM000663.1:g.161275722C>G	GRCh37
NC_000001.9:g.159542346C>G	NCBI36
NG_008055.1:g.9041G>C , LRG_256:g.9041G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.610G>C	ENSP00000488104.2:p.Ala204Pro
ENST00000533357.5:c.691G>C MANE Select	ENSP00000432943.1:p.Ala231Pro
ENST00000672287.2:c.103G>C	ENSP00000499818.2:p.Ala35Pro
ENST00000672602.2:c.691G>C	ENSP00000500814.2:p.Ala231Pro
ENST00000674861.1:n.754G>C
ENST00000463290.5:c.691G>C	ENSP00000431538.1:p.Ala231Pro
ENST00000476410.1:n.281G>C
ENST00000488271.1:n.129G>C
ENST00000491222.5:c.103G>C	ENSP00000431441.1:p.Ala35Pro
ENST00000526189.2:c.354G>C
ENST00000533357.4:c.691G>C	ENSP00000432943.1:p.Ala231Pro
NM_000530.6:c.691G>C , LRG_256t1:c.691G>C	NP_000521.2:p.Ala231Pro
NM_000530.7:c.691G>C	NP_000521.2:p.Ala231Pro
NM_001315491.1:c.691G>C	NP_001302420.1:p.Ala231Pro
XM_017001321.2:c.675+176G>C	XP_016856810.1:n.675+176G>C
NM_000530.8:c.691G>C MANE Select	NP_000521.2:p.Ala231Pro
NM_001315491.2:c.691G>C	NP_001302420.1:p.Ala231Pro