Canonical Allele Identifier: CA16042314

Gene: MPZ

Linked Data

• ClinVar Variation Id: 372846
• ClinVar RCV Id: RCV000412954 ; RCV003741178
• dbSNP Id: rs1057518021
• MyVariant Identifiers: chr1:g.161277215C>G (hg19) ; chr1:g.161307425C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307425C>G , CM000663.2:g.161307425C>G	GRCh38
NC_000001.10:g.161277215C>G , CM000663.1:g.161277215C>G	GRCh37
NC_000001.9:g.159543839C>G	NCBI36
NG_008055.1:g.7548G>C , LRG_256:g.7548G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.68-1G>C	ENSP00000488104.2:n.68-1G>C
ENST00000533357.5:c.68-1G>C MANE Select	ENSP00000432943.1:n.68-1G>C
ENST00000672287.2:c.-522G>C	ENSP00000499818.2:n.-522G>C
ENST00000672602.2:c.68-1G>C	ENSP00000500814.2:n.68-1G>C
ENST00000674861.1:n.131-1G>C
ENST00000463290.5:c.68-1G>C	ENSP00000431538.1:n.68-1G>C
ENST00000491222.5:c.-522G>C	ENSP00000431441.1:n.-522G>C
ENST00000533357.4:c.68-1G>C	ENSP00000432943.1:n.68-1G>C
NM_000530.6:c.68-1G>C , LRG_256t1:c.68-1G>C	NP_000521.2:n.68-1G>C
NM_000530.7:c.68-1G>C	NP_000521.2:n.68-1G>C
NM_001315491.1:c.68-1G>C	NP_001302420.1:n.68-1G>C
XM_017001321.2:c.98-1G>C	XP_016856810.1:n.98-1G>C
NM_000530.8:c.68-1G>C MANE Select	NP_000521.2:n.68-1G>C
NM_001315491.2:c.68-1G>C	NP_001302420.1:n.68-1G>C