Canonical Allele Identifier: CA405690708

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1180845
• ClinVar RCV Id: RCV001814574
• dbSNP Id: rs1429521079
• gnomAD v3: 19-38585034-A-G
• gnomAD v4: 19-38585034-A-G
• MyVariant Identifiers: chr19:g.39075674A>G (hg19) ; chr19:g.38585034A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585034A>G , CM000681.2:g.38585034A>G	GRCh38
NC_000019.9:g.39075674A>G , CM000681.1:g.39075674A>G	GRCh37
NC_000019.8:g.43767514A>G	NCBI36
NG_008866.1:g.156335A>G , LRG_766:g.156335A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1674A>G
ENST00000688602.1:c.3071A>G
ENST00000689936.1:c.3043A>G
ENST00000692547.1:n.131A>G
ENST00000359596.8:c.14738A>G MANE Select	ENSP00000352608.2:p.Tyr4913Cys
ENST00000355481.8:c.14723A>G	ENSP00000347667.3:p.Tyr4908Cys
ENST00000359596.7:c.14738A>G	ENSP00000352608.2:p.Tyr4913Cys
ENST00000360985.7:c.14720A>G	ENSP00000354254.4:p.Tyr4907Cys
NM_000540.2:c.14738A>G , LRG_766t1:c.14738A>G	NP_000531.2:p.Tyr4913Cys
NM_001042723.1:c.14723A>G	NP_001036188.1:p.Tyr4908Cys
XM_006723317.1:c.14720A>G	XP_006723380.1:p.Tyr4907Cys
XM_006723319.1:c.14705A>G	XP_006723382.1:p.Tyr4902Cys
XM_011527204.1:c.14735A>G	XP_011525506.1:p.Tyr4912Cys
XM_011527205.1:c.14651A>G	XP_011525507.1:p.Tyr4884Cys
XM_006723317.2:c.14720A>G	XP_006723380.1:p.Tyr4907Cys
XM_006723319.2:c.14705A>G	XP_006723382.1:p.Tyr4902Cys
XM_011527205.2:c.14651A>G	XP_011525507.1:p.Tyr4884Cys
NM_000540.3:c.14738A>G MANE Select	NP_000531.2:p.Tyr4913Cys
NM_001042723.2:c.14723A>G	NP_001036188.1:p.Tyr4908Cys