Canonical Allele Identifier: CA343344452

Gene: MPZ

Linked Data

• gnomAD v4: 1-161305970-A-G
• MyVariant Identifiers: chr1:g.161275760A>G (hg19) ; chr1:g.161305970A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305970A>G , CM000663.2:g.161305970A>G	GRCh38
NC_000001.10:g.161275760A>G , CM000663.1:g.161275760A>G	GRCh37
NC_000001.9:g.159542384A>G	NCBI36
NG_008055.1:g.9003T>C , LRG_256:g.9003T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.572T>C	ENSP00000488104.2:p.Val191Ala
ENST00000533357.5:c.653T>C MANE Select	ENSP00000432943.1:p.Val218Ala
ENST00000672287.2:c.65T>C	ENSP00000499818.2:p.Val22Ala
ENST00000672602.2:c.653T>C	ENSP00000500814.2:p.Val218Ala
ENST00000674861.1:n.716T>C
ENST00000463290.5:c.653T>C	ENSP00000431538.1:p.Val218Ala
ENST00000476410.1:n.243T>C
ENST00000488271.1:n.91T>C
ENST00000491222.5:c.65T>C	ENSP00000431441.1:p.Val22Ala
ENST00000526189.2:c.316T>C
ENST00000533357.4:c.653T>C	ENSP00000432943.1:p.Val218Ala
NM_000530.6:c.653T>C , LRG_256t1:c.653T>C	NP_000521.2:p.Val218Ala
NM_000530.7:c.653T>C	NP_000521.2:p.Val218Ala
NM_001315491.1:c.653T>C	NP_001302420.1:p.Val218Ala
XM_017001321.2:c.675+138T>C	XP_016856810.1:n.675+138T>C
NM_000530.8:c.653T>C MANE Select	NP_000521.2:p.Val218Ala
NM_001315491.2:c.653T>C	NP_001302420.1:p.Val218Ala