Canonical Allele Identifier: CA16621739

Gene: RYR1

Linked Data

• ClinVar Variation Id: 425187
• ClinVar RCV Id: RCV000488151
• dbSNP Id: rs1064797243
• MyVariant Identifiers: chr19:g.39077973T>A (hg19) ; chr19:g.38587333T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587333T>A , CM000681.2:g.38587333T>A	GRCh38
NC_000019.9:g.39077973T>A , CM000681.1:g.39077973T>A	GRCh37
NC_000019.8:g.43769813T>A	NCBI36
NG_008866.1:g.158634T>A , LRG_766:g.158634T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1957+757T>A
ENST00000688602.1:c.3363T>A
ENST00000689936.1:c.3335T>A
ENST00000692547.1:n.423T>A
ENST00000359596.8:c.15030T>A MANE Select	ENSP00000352608.2:p.Tyr5010Ter
ENST00000355481.8:c.15015T>A	ENSP00000347667.3:p.Tyr5005Ter
ENST00000359596.7:c.15030T>A	ENSP00000352608.2:p.Tyr5010Ter
ENST00000360985.7:c.15012T>A	ENSP00000354254.4:p.Tyr5004Ter
NM_000540.2:c.15030T>A , LRG_766t1:c.15030T>A	NP_000531.2:p.Tyr5010Ter
NM_001042723.1:c.15015T>A	NP_001036188.1:p.Tyr5005Ter
XM_006723317.1:c.15012T>A	XP_006723380.1:p.Tyr5004Ter
XM_006723319.1:c.14997T>A	XP_006723382.1:p.Tyr4999Ter
XM_011527204.1:c.15027T>A	XP_011525506.1:p.Tyr5009Ter
XM_011527205.1:c.14943T>A	XP_011525507.1:p.Tyr4981Ter
XM_006723317.2:c.15012T>A	XP_006723380.1:p.Tyr5004Ter
XM_006723319.2:c.14997T>A	XP_006723382.1:p.Tyr4999Ter
XM_011527205.2:c.14943T>A	XP_011525507.1:p.Tyr4981Ter
NM_000540.3:c.15030T>A MANE Select	NP_000531.2:p.Tyr5010Ter
NM_001042723.2:c.15015T>A	NP_001036188.1:p.Tyr5005Ter