Canonical Allele Identifier: CA343894

Gene: MPZ

Linked Data

• ClinVar Variation Id: 41016
• ClinVar RCV Id: RCV000033913 ; RCV000789424 ; RCV003581567
• dbSNP Id: rs281865123
• MyVariant Identifiers: chr1:g.161276705G>A (hg19) ; chr1:g.161306915G>A (hg38)
• PubMed: PMID:20301384

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306915G>A , CM000663.2:g.161306915G>A	GRCh38
NC_000001.10:g.161276705G>A , CM000663.1:g.161276705G>A	GRCh37
NC_000001.9:g.159543329G>A	NCBI36
NG_008055.1:g.8058C>T , LRG_256:g.8058C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.241C>T	ENSP00000488104.2:p.His81Tyr
ENST00000533357.5:c.241C>T MANE Select	ENSP00000432943.1:p.His81Tyr
ENST00000672287.2:c.-348C>T	ENSP00000499818.2:n.-348C>T
ENST00000672602.2:c.241C>T	ENSP00000500814.2:p.His81Tyr
ENST00000674861.1:n.304C>T
ENST00000463290.5:c.241C>T	ENSP00000431538.1:p.His81Tyr
ENST00000491222.5:c.-348C>T	ENSP00000431441.1:n.-348C>T
ENST00000533357.4:c.241C>T	ENSP00000432943.1:p.His81Tyr
NM_000530.6:c.241C>T , LRG_256t1:c.241C>T	NP_000521.2:p.His81Tyr
NM_000530.7:c.241C>T	NP_000521.2:p.His81Tyr
NM_001315491.1:c.241C>T	NP_001302420.1:p.His81Tyr
XM_017001321.2:c.271C>T	XP_016856810.1:p.His91Tyr
NM_000530.8:c.241C>T MANE Select	NP_000521.2:p.His81Tyr
NM_001315491.2:c.241C>T	NP_001302420.1:p.His81Tyr