Canonical Allele Identifier: CA16612220

Gene: RINT1

Linked Data

• ClinVar Variation Id: 416379
• ClinVar RCV Id: RCV000467407 ; RCV004023031
• dbSNP Id: rs1060504807
• gnomAD v2: 7-105173312-G-A
• gnomAD v3: 7-105532865-G-A
• gnomAD v4: 7-105532865-G-A
• MyVariant Identifiers: chr7:g.105173312G>A (hg19) ; chr7:g.105532865G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105532865G>A , CM000669.2:g.105532865G>A	GRCh38
NC_000007.13:g.105173312G>A , CM000669.1:g.105173312G>A	GRCh37
NC_000007.12:g.104960548G>A	NCBI36
NG_051951.1:g.5785G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257700.7:c.84G>A MANE Select	ENSP00000257700.2:p.Glu28=
ENST00000257700.6:c.84G>A	ENSP00000257700.2:p.Glu28=
ENST00000467392.5:c.84G>A	ENSP00000418805.1:p.Glu28=
ENST00000482041.5:c.84G>A	ENSP00000417107.1:p.Glu28=
ENST00000493041.5:c.84G>A	ENSP00000417954.1:p.Glu28=
ENST00000497979.5:c.84G>A	ENSP00000420582.1:p.Glu28=
NM_021930.4:c.84G>A	NP_068749.3:p.Glu28=
XR_927507.1:n.231G>A
NM_001346599.1:c.-14G>A	NP_001333528.1:n.-14G>A
NM_001346600.1:c.-936G>A	NP_001333529.1:n.-936G>A
NM_001346601.1:c.-839G>A	NP_001333530.1:n.-839G>A
NM_001346603.1:c.-459G>A	NP_001333532.1:n.-459G>A
NM_021930.5:c.84G>A	NP_068749.3:p.Glu28=
NR_144478.1:n.319G>A
XM_024446855.1:c.84G>A	XP_024302623.1:p.Glu28=
XM_024446856.1:c.-459G>A	XP_024302624.1:n.-459G>A
NM_021930.6:c.84G>A MANE Select	NP_068749.3:p.Glu28=
NM_001346599.2:c.-14G>A	NP_001333528.1:n.-14G>A
NM_001346600.2:c.-936G>A	NP_001333529.1:n.-936G>A
NM_001346601.2:c.-839G>A	NP_001333530.1:n.-839G>A
NM_001346603.2:c.-459G>A	NP_001333532.1:n.-459G>A
NR_144478.2:n.199G>A