Canonical Allele Identifier: CA421405248

Gene: MPZ

Linked Data

• ClinVar Variation Id: 462793
• ClinVar RCV Id: RCV000528906 ; RCV002438343
• dbSNP Id: rs770430402
• gnomAD v3: 1-161306859-G-A
• gnomAD v4: 1-161306859-G-A
• MyVariant Identifiers: chr1:g.161276649G>A (hg19) ; chr1:g.161306859G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306859G>A , CM000663.2:g.161306859G>A	GRCh38
NC_000001.10:g.161276649G>A , CM000663.1:g.161276649G>A	GRCh37
NC_000001.9:g.159543273G>A	NCBI36
NG_008055.1:g.8114C>T , LRG_256:g.8114C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.297C>T	ENSP00000488104.2:p.Ile99=
ENST00000533357.5:c.297C>T MANE Select	ENSP00000432943.1:p.Ile99=
ENST00000672287.2:c.-292C>T	ENSP00000499818.2:n.-292C>T
ENST00000672602.2:c.297C>T	ENSP00000500814.2:p.Ile99=
ENST00000674861.1:n.360C>T
ENST00000463290.5:c.297C>T	ENSP00000431538.1:p.Ile99=
ENST00000491222.5:c.-292C>T	ENSP00000431441.1:n.-292C>T
ENST00000526189.2:c.41C>T
ENST00000533357.4:c.297C>T	ENSP00000432943.1:p.Ile99=
NM_000530.6:c.297C>T , LRG_256t1:c.297C>T	NP_000521.2:p.Ile99=
NM_000530.7:c.297C>T	NP_000521.2:p.Ile99=
NM_001315491.1:c.297C>T	NP_001302420.1:p.Ile99=
XM_017001321.2:c.327C>T	XP_016856810.1:p.Ile109=
NM_000530.8:c.297C>T MANE Select	NP_000521.2:p.Ile99=
NM_001315491.2:c.297C>T	NP_001302420.1:p.Ile99=