Canonical Allele Identifier: CA1210076

Gene: MPZ

Linked Data

• ClinVar Variation Id: 2899263
• ClinVar RCV Id: RCV003740783
• dbSNP Id: rs779164418
• ExAC: 1:161275767 T / C
• gnomAD v2: 1-161275767-T-C
• gnomAD v3: 1-161305977-T-C
• gnomAD v4: 1-161305977-T-C
• MyVariant Identifiers: chr1:g.161275767T>C (hg19) ; chr1:g.161305977T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305977T>C , CM000663.2:g.161305977T>C	GRCh38
NC_000001.10:g.161275767T>C , CM000663.1:g.161275767T>C	GRCh37
NC_000001.9:g.159542391T>C	NCBI36
NG_008055.1:g.8996A>G , LRG_256:g.8996A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.565A>G	ENSP00000488104.2:p.Thr189Ala
ENST00000533357.5:c.646A>G MANE Select	ENSP00000432943.1:p.Thr216Ala
ENST00000672287.2:c.58A>G	ENSP00000499818.2:p.Thr20Ala
ENST00000672602.2:c.646A>G	ENSP00000500814.2:p.Thr216Ala
ENST00000674861.1:n.709A>G
ENST00000463290.5:c.646A>G	ENSP00000431538.1:p.Thr216Ala
ENST00000476410.1:n.236A>G
ENST00000488271.1:n.84A>G
ENST00000491222.5:c.58A>G	ENSP00000431441.1:p.Thr20Ala
ENST00000526189.2:c.309A>G
ENST00000533357.4:c.646A>G	ENSP00000432943.1:p.Thr216Ala
NM_000530.6:c.646A>G , LRG_256t1:c.646A>G	NP_000521.2:p.Thr216Ala
NM_000530.7:c.646A>G	NP_000521.2:p.Thr216Ala
NM_001315491.1:c.646A>G	NP_001302420.1:p.Thr216Ala
XM_017001321.2:c.675+131A>G	XP_016856810.1:n.675+131A>G
NM_000530.8:c.646A>G MANE Select	NP_000521.2:p.Thr216Ala
NM_001315491.2:c.646A>G	NP_001302420.1:p.Thr216Ala