Canonical Allele Identifier: CA186059

Gene: MRI1

Linked Data

• ClinVar Variation Id: 183306
• ClinVar RCV Id: RCV000162126 ; RCV003987382
• dbSNP Id: rs141094096
• ExAC: 19:13879456 G / A
• gnomAD v2: 19-13879456-G-A
• gnomAD v3: 19-13768642-G-A
• gnomAD v4: 19-13768642-G-A
• MyVariant Identifiers: chr19:g.13879456G>A (hg19) ; chr19:g.13768642G>A (hg38)
• PubMed: PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13768642G>A , CM000681.2:g.13768642G>A	GRCh38
NC_000019.9:g.13879456G>A , CM000681.1:g.13879456G>A	GRCh37
NC_000019.8:g.13740456G>A	NCBI36
NG_051243.1:g.9151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000040663.8:c.629G>A MANE Select	ENSP00000040663.5:p.Arg210Gln
ENST00000040663.7:c.629G>A	ENSP00000040663.5:p.Arg210Gln
ENST00000319545.12:c.488G>A	ENSP00000314871.7:p.Arg163Gln
ENST00000588526.5:n.824G>A
ENST00000591688.5:n.669G>A
NM_001031727.2:c.629G>A	NP_001026897.1:p.Arg210Gln
NM_032285.2:c.488G>A	NP_115661.1:p.Arg163Gln
XM_011528355.1:c.542G>A	XP_011526657.1:p.Arg181Gln
XM_011528356.1:c.629G>A	XP_011526658.1:p.Arg210Gln
XM_011528357.1:c.*76G>A	XP_011526659.1:n.*76G>A
XR_244089.2:n.923G>A
NM_001031727.3:c.629G>A	NP_001026897.1:p.Arg210Gln
NM_001329572.1:c.542G>A	NP_001316501.1:p.Arg181Gln
NM_032285.3:c.488G>A	NP_115661.1:p.Arg163Gln
NR_138051.1:n.729G>A
XM_011528356.2:c.629G>A	XP_011526658.1:p.Arg210Gln
XM_011528357.3:c.*76G>A	XP_011526659.1:n.*76G>A
XR_244089.4:n.922G>A
NM_001031727.4:c.629G>A MANE Select	NP_001026897.1:p.Arg210Gln
NM_001329572.2:c.542G>A	NP_001316501.1:p.Arg181Gln
NM_032285.4:c.488G>A	NP_115661.1:p.Arg163Gln
NR_138051.2:n.721G>A