Canonical Allele Identifier: CA633066240

Gene: RYR1

Linked Data

• dbSNP Id: rs1261232968
• gnomAD v2: 19-38993406-G-GGCAGGA
• gnomAD v3: 19-38502766-G-GGCAGGA
• gnomAD v4: 19-38502766-G-GGCAGGA
• MyVariant Identifiers: chr19:g.38993412_38993454delinsAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (hg19) ; chr19:g.38993406_38993407insGCAGGA (hg19) ; chr19:g.38502772_38502814delinsAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (hg38) ; chr19:g.38502766_38502767insGCAGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502771_38502772insAGCAGG , CM000681.2:g.38502771_38502772insAGCAGG	GRCh38
NC_000019.9:g.38993411_38993412insAGCAGG , CM000681.1:g.38993411_38993412insAGCAGG	GRCh37
NC_000019.8:g.43685251_43685252insAGCAGG	NCBI36
NG_008866.1:g.74072_74073insAGCAGG , LRG_766:g.74072_74073insAGCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+44_7835+45insAGCAGG	ENSP00000471601.2:n.7835+44_7835+45insAGCAGG
ENST00000359596.8:c.7835+44_7835+45insAGCAGG MANE Select	ENSP00000352608.2:n.7835+44_7835+45insAGCAGG
ENST00000355481.8:c.7835+44_7835+45insAGCAGG	ENSP00000347667.3:n.7835+44_7835+45insAGCAGG
ENST00000359596.7:c.7835+44_7835+45insAGCAGG	ENSP00000352608.2:n.7835+44_7835+45insAGCAGG
ENST00000360985.7:c.7832+44_7832+45insAGCAGG	ENSP00000354254.4:n.7832+44_7832+45insAGCAGG
ENST00000594335.5:c.1287+44_1287+45insAGCAGG
NM_000540.2:c.7835+44_7835+45insAGCAGG , LRG_766t1:c.7835+44_7835+45insAGCAGG	NP_000531.2:n.7835+44_7835+45insAGCAGG
NM_001042723.1:c.7835+44_7835+45insAGCAGG	NP_001036188.1:n.7835+44_7835+45insAGCAGG
XM_006723317.1:c.7835+44_7835+45insAGCAGG	XP_006723380.1:n.7835+44_7835+45insAGCAGG
XM_006723319.1:c.7835+44_7835+45insAGCAGG	XP_006723382.1:n.7835+44_7835+45insAGCAGG
XM_011527204.1:c.7832+44_7832+45insAGCAGG	XP_011525506.1:n.7832+44_7832+45insAGCAGG
XM_011527205.1:c.7835+44_7835+45insAGCAGG	XP_011525507.1:n.7835+44_7835+45insAGCAGG
XM_006723317.2:c.7835+44_7835+45insAGCAGG	XP_006723380.1:n.7835+44_7835+45insAGCAGG
XM_006723319.2:c.7835+44_7835+45insAGCAGG	XP_006723382.1:n.7835+44_7835+45insAGCAGG
XM_011527205.2:c.7835+44_7835+45insAGCAGG	XP_011525507.1:n.7835+44_7835+45insAGCAGG
XR_001753735.1:n.7918+44_7918+45insAGCAGG
NM_000540.3:c.7835+44_7835+45insAGCAGG MANE Select	NP_000531.2:n.7835+44_7835+45insAGCAGG
NM_001042723.2:c.7835+44_7835+45insAGCAGG	NP_001036188.1:n.7835+44_7835+45insAGCAGG