Canonical Allele Identifier: CA527135356

Gene: MPZ

Linked Data

• ClinVar Variation Id: 1404018
• ClinVar RCV Id: RCV001925511
• dbSNP Id: rs1352578591
• gnomAD v2: 1-161277032-T-A
• gnomAD v3: 1-161307242-T-A
• gnomAD v4: 1-161307242-T-A
• MyVariant Identifiers: chr1:g.161277032T>A (hg19) ; chr1:g.161307242T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307242T>A , CM000663.2:g.161307242T>A	GRCh38
NC_000001.10:g.161277032T>A , CM000663.1:g.161277032T>A	GRCh37
NC_000001.9:g.159543656T>A	NCBI36
NG_008055.1:g.7731A>T , LRG_256:g.7731A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.234+16A>T	ENSP00000488104.2:n.234+16A>T
ENST00000533357.5:c.234+16A>T MANE Select	ENSP00000432943.1:n.234+16A>T
ENST00000672287.2:c.-355+16A>T	ENSP00000499818.2:n.-355+16A>T
ENST00000672602.2:c.234+16A>T	ENSP00000500814.2:n.234+16A>T
ENST00000674861.1:n.297+16A>T
ENST00000463290.5:c.234+16A>T	ENSP00000431538.1:n.234+16A>T
ENST00000491222.5:c.-355+16A>T	ENSP00000431441.1:n.-355+16A>T
ENST00000533357.4:c.234+16A>T	ENSP00000432943.1:n.234+16A>T
NM_000530.6:c.234+16A>T , LRG_256t1:c.234+16A>T	NP_000521.2:n.234+16A>T
NM_000530.7:c.234+16A>T	NP_000521.2:n.234+16A>T
NM_001315491.1:c.234+16A>T	NP_001302420.1:n.234+16A>T
XM_017001321.2:c.264+16A>T	XP_016856810.1:n.264+16A>T
NM_000530.8:c.234+16A>T MANE Select	NP_000521.2:n.234+16A>T
NM_001315491.2:c.234+16A>T	NP_001302420.1:n.234+16A>T