Canonical Allele Identifier: CA633066217

Gene: RYR1

Linked Data

• dbSNP Id: rs71165552
• gnomAD v2: 19-38993391-T-TGGGGCAGGGGCAGGGGCA
• gnomAD v3: 19-38502751-T-TGGGGCAGGGGCAGGGGCA
• gnomAD v4: 19-38502751-T-TGGGGCAGGGGCAGGGGCA
• MyVariant Identifiers: chr19:g.38993409_38993410insGGGGCAGGGGCAGGGGCA (hg19) ; chr19:g.38993391_38993392insGGGGCAGGGGCAGGGGCA (hg19) ; chr19:g.38502769_38502770insGGGGCAGGGGCAGGGGCA (hg38) ; chr19:g.38502751_38502752insGGGGCAGGGGCAGGGGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502792_38502809dup , CM000681.2:g.38502792_38502809dup	GRCh38
NC_000019.9:g.38993432_38993449dup , CM000681.1:g.38993432_38993449dup	GRCh37
NC_000019.8:g.43685272_43685289dup	NCBI36
NG_008866.1:g.74093_74110dup , LRG_766:g.74093_74110dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7835+65_7836-71dup	ENSP00000471601.2:n.7835+65_7836-71dup
ENST00000359596.8:c.7835+65_7836-71dup MANE Select	ENSP00000352608.2:n.7835+65_7836-71dup
ENST00000355481.8:c.7835+65_7836-71dup	ENSP00000347667.3:n.7835+65_7836-71dup
ENST00000359596.7:c.7835+65_7836-71dup	ENSP00000352608.2:n.7835+65_7836-71dup
ENST00000360985.7:c.7832+65_7833-71dup	ENSP00000354254.4:n.7832+65_7833-71dup
ENST00000594335.5:c.1287+65_1288-71dup
NM_000540.2:c.7835+65_7836-71dup , LRG_766t1:c.7835+65_7836-71dup	NP_000531.2:n.7835+65_7836-71dup
NM_001042723.1:c.7835+65_7836-71dup	NP_001036188.1:n.7835+65_7836-71dup
XM_006723317.1:c.7835+65_7836-71dup	XP_006723380.1:n.7835+65_7836-71dup
XM_006723319.1:c.7835+65_7836-71dup	XP_006723382.1:n.7835+65_7836-71dup
XM_011527204.1:c.7832+65_7833-71dup	XP_011525506.1:n.7832+65_7833-71dup
XM_011527205.1:c.7835+65_7836-71dup	XP_011525507.1:n.7835+65_7836-71dup
XM_006723317.2:c.7835+65_7836-71dup	XP_006723380.1:n.7835+65_7836-71dup
XM_006723319.2:c.7835+65_7836-71dup	XP_006723382.1:n.7835+65_7836-71dup
XM_011527205.2:c.7835+65_7836-71dup	XP_011525507.1:n.7835+65_7836-71dup
XR_001753735.1:n.7918+65_7919-71dup
NM_000540.3:c.7835+65_7836-71dup MANE Select	NP_000531.2:n.7835+65_7836-71dup
NM_001042723.2:c.7835+65_7836-71dup	NP_001036188.1:n.7835+65_7836-71dup