Canonical Allele Identifier: CA343343748

Gene: MPZ

Linked Data

• ClinVar Variation Id: 637339
• ClinVar RCV Id: RCV000789459
• dbSNP Id: rs1571816977
• MyVariant Identifiers: chr1:g.161275671T>A (hg19) ; chr1:g.161305881T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305881T>A , CM000663.2:g.161305881T>A	GRCh38
NC_000001.10:g.161275671T>A , CM000663.1:g.161275671T>A	GRCh37
NC_000001.9:g.159542295T>A	NCBI36
NG_008055.1:g.9092A>T , LRG_256:g.9092A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.661A>T	ENSP00000488104.2:p.Lys221Ter
ENST00000533357.5:c.742A>T MANE Select	ENSP00000432943.1:p.Lys248Ter
ENST00000672287.2:c.154A>T	ENSP00000499818.2:p.Lys52Ter
ENST00000672602.2:c.742A>T	ENSP00000500814.2:p.Lys248Ter
ENST00000674861.1:n.805A>T
ENST00000463290.5:c.742A>T	ENSP00000431538.1:p.Lys248Ter
ENST00000476410.1:n.332A>T
ENST00000488271.1:n.180A>T
ENST00000491222.5:c.154A>T	ENSP00000431441.1:p.Lys52Ter
ENST00000526189.2:c.405A>T
ENST00000533357.4:c.742A>T	ENSP00000432943.1:p.Lys248Ter
NM_000530.6:c.742A>T , LRG_256t1:c.742A>T	NP_000521.2:p.Lys248Ter
NM_000530.7:c.742A>T	NP_000521.2:p.Lys248Ter
NM_001315491.1:c.742A>T	NP_001302420.1:p.Lys248Ter
XM_017001321.2:c.675+227A>T	XP_016856810.1:n.675+227A>T
NM_000530.8:c.742A>T MANE Select	NP_000521.2:p.Lys248Ter
NM_001315491.2:c.742A>T	NP_001302420.1:p.Lys248Ter