Canonical Allele Identifier: CA343351309

Gene: MPZ

Linked Data

• ClinVar Variation Id: 1390060
• ClinVar RCV Id: RCV001890814
• dbSNP Id: rs1571820190
• MyVariant Identifiers: chr1:g.161277146C>G (hg19) ; chr1:g.161307356C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307356C>G , CM000663.2:g.161307356C>G	GRCh38
NC_000001.10:g.161277146C>G , CM000663.1:g.161277146C>G	GRCh37
NC_000001.9:g.159543770C>G	NCBI36
NG_008055.1:g.7617G>C , LRG_256:g.7617G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.136G>C	ENSP00000488104.2:p.Val46Leu
ENST00000533357.5:c.136G>C MANE Select	ENSP00000432943.1:p.Val46Leu
ENST00000672287.2:c.-453G>C	ENSP00000499818.2:n.-453G>C
ENST00000672602.2:c.136G>C	ENSP00000500814.2:p.Val46Leu
ENST00000674861.1:n.199G>C
ENST00000463290.5:c.136G>C	ENSP00000431538.1:p.Val46Leu
ENST00000491222.5:c.-453G>C	ENSP00000431441.1:n.-453G>C
ENST00000533357.4:c.136G>C	ENSP00000432943.1:p.Val46Leu
NM_000530.6:c.136G>C , LRG_256t1:c.136G>C	NP_000521.2:p.Val46Leu
NM_000530.7:c.136G>C	NP_000521.2:p.Val46Leu
NM_001315491.1:c.136G>C	NP_001302420.1:p.Val46Leu
XM_017001321.2:c.166G>C	XP_016856810.1:p.Val56Leu
NM_000530.8:c.136G>C MANE Select	NP_000521.2:p.Val46Leu
NM_001315491.2:c.136G>C	NP_001302420.1:p.Val46Leu