Canonical Allele Identifier: CA343918

Gene: MPZ

Linked Data

• ClinVar Variation Id: 41028
• ClinVar RCV Id: RCV000033925 ; RCV000790078
• dbSNP Id: rs281865132
• MyVariant Identifiers: chr1:g.161275764G>A (hg19) ; chr1:g.161305974G>A (hg38)
• PubMed: PMID:20301384

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305974G>A , CM000663.2:g.161305974G>A	GRCh38
NC_000001.10:g.161275764G>A , CM000663.1:g.161275764G>A	GRCh37
NC_000001.9:g.159542388G>A	NCBI36
NG_008055.1:g.8999C>T , LRG_256:g.8999C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.568C>T	ENSP00000488104.2:p.Pro190Ser
ENST00000533357.5:c.649C>T MANE Select	ENSP00000432943.1:p.Pro217Ser
ENST00000672287.2:c.61C>T	ENSP00000499818.2:p.Pro21Ser
ENST00000672602.2:c.649C>T	ENSP00000500814.2:p.Pro217Ser
ENST00000674861.1:n.712C>T
ENST00000463290.5:c.649C>T	ENSP00000431538.1:p.Pro217Ser
ENST00000476410.1:n.239C>T
ENST00000488271.1:n.87C>T
ENST00000491222.5:c.61C>T	ENSP00000431441.1:p.Pro21Ser
ENST00000526189.2:c.312C>T
ENST00000533357.4:c.649C>T	ENSP00000432943.1:p.Pro217Ser
NM_000530.6:c.649C>T , LRG_256t1:c.649C>T	NP_000521.2:p.Pro217Ser
NM_000530.7:c.649C>T	NP_000521.2:p.Pro217Ser
NM_001315491.1:c.649C>T	NP_001302420.1:p.Pro217Ser
XM_017001321.2:c.675+134C>T	XP_016856810.1:n.675+134C>T
NM_000530.8:c.649C>T MANE Select	NP_000521.2:p.Pro217Ser
NM_001315491.2:c.649C>T	NP_001302420.1:p.Pro217Ser