Canonical Allele Identifier: CA024220

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65989
• ClinVar RCV Id: RCV000056236 ; RCV000119545 ; RCV001046476 ; RCV002496742 ; RCV003996489
• dbSNP Id: rs118192150
• gnomAD v4: 19-38584973-C-T
• MyVariant Identifiers: chr19:g.39075613C>T (hg19) ; chr19:g.38584973C>T (hg38)
• PubMed: PMID:11709545 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584973C>T , CM000681.2:g.38584973C>T	GRCh38
NC_000019.9:g.39075613C>T , CM000681.1:g.39075613C>T	GRCh37
NC_000019.8:g.43767453C>T	NCBI36
NG_008866.1:g.156274C>T , LRG_766:g.156274C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1613C>T
ENST00000688602.1:c.3010C>T
ENST00000689936.1:c.2982C>T
ENST00000692547.1:n.70C>T
ENST00000359596.8:c.14677C>T MANE Select	ENSP00000352608.2:p.Arg4893Trp
ENST00000355481.8:c.14662C>T	ENSP00000347667.3:p.Arg4888Trp
ENST00000359596.7:c.14677C>T	ENSP00000352608.2:p.Arg4893Trp
ENST00000360985.7:c.14659C>T	ENSP00000354254.4:p.Arg4887Trp
NM_000540.2:c.14677C>T , LRG_766t1:c.14677C>T	NP_000531.2:p.Arg4893Trp
NM_001042723.1:c.14662C>T	NP_001036188.1:p.Arg4888Trp
XM_006723317.1:c.14659C>T	XP_006723380.1:p.Arg4887Trp
XM_006723319.1:c.14644C>T	XP_006723382.1:p.Arg4882Trp
XM_011527204.1:c.14674C>T	XP_011525506.1:p.Arg4892Trp
XM_011527205.1:c.14590C>T	XP_011525507.1:p.Arg4864Trp
XM_006723317.2:c.14659C>T	XP_006723380.1:p.Arg4887Trp
XM_006723319.2:c.14644C>T	XP_006723382.1:p.Arg4882Trp
XM_011527205.2:c.14590C>T	XP_011525507.1:p.Arg4864Trp
NM_000540.3:c.14677C>T MANE Select	NP_000531.2:p.Arg4893Trp
NM_001042723.2:c.14662C>T	NP_001036188.1:p.Arg4888Trp