Canonical Allele Identifier: CA1210251

Gene: MPZ

Linked Data

• ClinVar Variation Id: 511451
• ClinVar RCV Id: RCV000712318 ; RCV001474971 ; RCV000612080 ; RCV002341577
• dbSNP Id: rs149637045
• ExAC: 1:161279645 C / T
• gnomAD v2: 1-161279645-C-T
• gnomAD v3: 1-161309855-C-T
• gnomAD v4: 1-161309855-C-T
• MyVariant Identifiers: chr1:g.161279645C>T (hg19) ; chr1:g.161309855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161309855C>T , CM000663.2:g.161309855C>T	GRCh38
NC_000001.10:g.161279645C>T , CM000663.1:g.161279645C>T	GRCh37
NC_000001.9:g.159546269C>T	NCBI36
NG_008055.1:g.5118G>A , LRG_256:g.5118G>A
NG_012767.1:g.480C>T , LRG_317:g.480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.51G>A	ENSP00000488104.2:p.Leu17=
ENST00000533357.5:c.51G>A MANE Select	ENSP00000432943.1:p.Leu17=
ENST00000672602.2:c.51G>A	ENSP00000500814.2:p.Leu17=
ENST00000674861.1:n.114G>A
ENST00000463290.5:c.51G>A	ENSP00000431538.1:p.Leu17=
ENST00000533357.4:c.51G>A	ENSP00000432943.1:p.Leu17=
NM_000530.6:c.51G>A , LRG_256t1:c.51G>A	NP_000521.2:p.Leu17=
NM_000530.7:c.51G>A	NP_000521.2:p.Leu17=
NM_001315491.1:c.51G>A	NP_001302420.1:p.Leu17=
XM_017001321.2:c.81G>A	XP_016856810.1:p.Leu27=
NM_000530.8:c.51G>A MANE Select	NP_000521.2:p.Leu17=
NM_001315491.2:c.51G>A	NP_001302420.1:p.Leu17=