Canonical Allele Identifier: CA061319

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1154763
• ClinVar RCV Id: RCV001496883
• dbSNP Id: rs771061423
• ExAC: 19:39070732 C / T
• gnomAD v2: 19-39070732-C-T
• gnomAD v4: 19-38580092-C-T
• MyVariant Identifiers: chr19:g.39070732C>T (hg19) ; chr19:g.38580092C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580092C>T , CM000681.2:g.38580092C>T	GRCh38
NC_000019.9:g.39070732C>T , CM000681.1:g.39070732C>T	GRCh37
NC_000019.8:g.43762572C>T	NCBI36
NG_008866.1:g.151393C>T , LRG_766:g.151393C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1411C>T
ENST00000688602.1:c.2808C>T
ENST00000689936.1:c.2780C>T
ENST00000359596.8:c.14475C>T MANE Select	ENSP00000352608.2:p.Arg4825=
ENST00000355481.8:c.14460C>T	ENSP00000347667.3:p.Arg4820=
ENST00000359596.7:c.14475C>T	ENSP00000352608.2:p.Arg4825=
ENST00000360985.7:c.14457C>T	ENSP00000354254.4:p.Arg4819=
NM_000540.2:c.14475C>T , LRG_766t1:c.14475C>T	NP_000531.2:p.Arg4825=
NM_001042723.1:c.14460C>T	NP_001036188.1:p.Arg4820=
XM_006723317.1:c.14457C>T	XP_006723380.1:p.Arg4819=
XM_006723319.1:c.14442C>T	XP_006723382.1:p.Arg4814=
XM_011527204.1:c.14472C>T	XP_011525506.1:p.Arg4824=
XM_011527205.1:c.14388C>T	XP_011525507.1:p.Arg4796=
XM_006723317.2:c.14457C>T	XP_006723380.1:p.Arg4819=
XM_006723319.2:c.14442C>T	XP_006723382.1:p.Arg4814=
XM_011527205.2:c.14388C>T	XP_011525507.1:p.Arg4796=
NM_000540.3:c.14475C>T MANE Select	NP_000531.2:p.Arg4825=
NM_001042723.2:c.14460C>T	NP_001036188.1:p.Arg4820=