Canonical Allele Identifier: CA061859

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1414563
• ClinVar RCV Id: RCV001930530
• dbSNP Id: rs760607196
• ExAC: 19:39076826 T / A
• gnomAD v2: 19-39076826-T-A
• gnomAD v4: 19-38586186-T-A
• MyVariant Identifiers: chr19:g.39076826T>A (hg19) ; chr19:g.38586186T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586186T>A , CM000681.2:g.38586186T>A	GRCh38
NC_000019.9:g.39076826T>A , CM000681.1:g.39076826T>A	GRCh37
NC_000019.8:g.43768666T>A	NCBI36
NG_008866.1:g.157487T>A , LRG_766:g.157487T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1900T>A
ENST00000688602.1:c.3297T>A
ENST00000689936.1:c.3269T>A
ENST00000692547.1:n.357T>A
ENST00000359596.8:c.14964T>A MANE Select	ENSP00000352608.2:p.Asn4988Lys
ENST00000355481.8:c.14949T>A	ENSP00000347667.3:p.Asn4983Lys
ENST00000359596.7:c.14964T>A	ENSP00000352608.2:p.Asn4988Lys
ENST00000360985.7:c.14946T>A	ENSP00000354254.4:p.Asn4982Lys
NM_000540.2:c.14964T>A , LRG_766t1:c.14964T>A	NP_000531.2:p.Asn4988Lys
NM_001042723.1:c.14949T>A	NP_001036188.1:p.Asn4983Lys
XM_006723317.1:c.14946T>A	XP_006723380.1:p.Asn4982Lys
XM_006723319.1:c.14931T>A	XP_006723382.1:p.Asn4977Lys
XM_011527204.1:c.14961T>A	XP_011525506.1:p.Asn4987Lys
XM_011527205.1:c.14877T>A	XP_011525507.1:p.Asn4959Lys
XM_006723317.2:c.14946T>A	XP_006723380.1:p.Asn4982Lys
XM_006723319.2:c.14931T>A	XP_006723382.1:p.Asn4977Lys
XM_011527205.2:c.14877T>A	XP_011525507.1:p.Asn4959Lys
NM_000540.3:c.14964T>A MANE Select	NP_000531.2:p.Asn4988Lys
NM_001042723.2:c.14949T>A	NP_001036188.1:p.Asn4983Lys