Canonical Allele Identifier: CA527135357

Gene: MPZ

Linked Data

• ClinVar Variation Id: 2807510
• ClinVar RCV Id: RCV003741667
• dbSNP Id: rs1268612285
• gnomAD v2: 1-161277034-C-T
• gnomAD v3: 1-161307244-C-T
• gnomAD v4: 1-161307244-C-T
• MyVariant Identifiers: chr1:g.161277034C>T (hg19) ; chr1:g.161307244C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307244C>T , CM000663.2:g.161307244C>T	GRCh38
NC_000001.10:g.161277034C>T , CM000663.1:g.161277034C>T	GRCh37
NC_000001.9:g.159543658C>T	NCBI36
NG_008055.1:g.7729G>A , LRG_256:g.7729G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.234+14G>A	ENSP00000488104.2:n.234+14G>A
ENST00000533357.5:c.234+14G>A MANE Select	ENSP00000432943.1:n.234+14G>A
ENST00000672287.2:c.-355+14G>A	ENSP00000499818.2:n.-355+14G>A
ENST00000672602.2:c.234+14G>A	ENSP00000500814.2:n.234+14G>A
ENST00000674861.1:n.297+14G>A
ENST00000463290.5:c.234+14G>A	ENSP00000431538.1:n.234+14G>A
ENST00000491222.5:c.-355+14G>A	ENSP00000431441.1:n.-355+14G>A
ENST00000533357.4:c.234+14G>A	ENSP00000432943.1:n.234+14G>A
NM_000530.6:c.234+14G>A , LRG_256t1:c.234+14G>A	NP_000521.2:n.234+14G>A
NM_000530.7:c.234+14G>A	NP_000521.2:n.234+14G>A
NM_001315491.1:c.234+14G>A	NP_001302420.1:n.234+14G>A
XM_017001321.2:c.264+14G>A	XP_016856810.1:n.264+14G>A
NM_000530.8:c.234+14G>A MANE Select	NP_000521.2:n.234+14G>A
NM_001315491.2:c.234+14G>A	NP_001302420.1:n.234+14G>A