Canonical Allele Identifier: CA343351624

Gene: MPZ

Linked Data

• ClinVar Variation Id: 531689
• ClinVar RCV Id: RCV000638169
• dbSNP Id: rs1386345719
• MyVariant Identifiers: chr1:g.161277194T>G (hg19) ; chr1:g.161307404T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307404T>G , CM000663.2:g.161307404T>G	GRCh38
NC_000001.10:g.161277194T>G , CM000663.1:g.161277194T>G	GRCh37
NC_000001.9:g.159543818T>G	NCBI36
NG_008055.1:g.7569A>C , LRG_256:g.7569A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.88A>C	ENSP00000488104.2:p.Ile30Leu
ENST00000533357.5:c.88A>C MANE Select	ENSP00000432943.1:p.Ile30Leu
ENST00000672287.2:c.-501A>C	ENSP00000499818.2:n.-501A>C
ENST00000672602.2:c.88A>C	ENSP00000500814.2:p.Ile30Leu
ENST00000674861.1:n.151A>C
ENST00000463290.5:c.88A>C	ENSP00000431538.1:p.Ile30Leu
ENST00000491222.5:c.-501A>C	ENSP00000431441.1:n.-501A>C
ENST00000533357.4:c.88A>C	ENSP00000432943.1:p.Ile30Leu
NM_000530.6:c.88A>C , LRG_256t1:c.88A>C	NP_000521.2:p.Ile30Leu
NM_000530.7:c.88A>C	NP_000521.2:p.Ile30Leu
NM_001315491.1:c.88A>C	NP_001302420.1:p.Ile30Leu
XM_017001321.2:c.118A>C	XP_016856810.1:p.Ile40Leu
NM_000530.8:c.88A>C MANE Select	NP_000521.2:p.Ile30Leu
NM_001315491.2:c.88A>C	NP_001302420.1:p.Ile30Leu