Canonical Allele Identifier: CA024280

Gene: RYR1

Linked Data

• ClinVar Variation Id: 93257
• ClinVar RCV Id: RCV000079134 ; RCV000801203
• dbSNP Id: rs398123471
• ExAC: 19:39076801 C / T
• gnomAD v2: 19-39076801-C-T
• gnomAD v4: 19-38586161-C-T
• COSMIC: COSM385043
• MyVariant Identifiers: chr19:g.39076801C>T (hg19) ; chr19:g.38586161C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586161C>T , CM000681.2:g.38586161C>T	GRCh38
NC_000019.9:g.39076801C>T , CM000681.1:g.39076801C>T	GRCh37
NC_000019.8:g.43768641C>T	NCBI36
NG_008866.1:g.157462C>T , LRG_766:g.157462C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1875C>T
ENST00000688602.1:c.3272C>T
ENST00000689936.1:c.3244C>T
ENST00000692547.1:n.332C>T
ENST00000359596.8:c.14939C>T MANE Select	ENSP00000352608.2:p.Thr4980Met
ENST00000355481.8:c.14924C>T	ENSP00000347667.3:p.Thr4975Met
ENST00000359596.7:c.14939C>T	ENSP00000352608.2:p.Thr4980Met
ENST00000360985.7:c.14921C>T	ENSP00000354254.4:p.Thr4974Met
NM_000540.2:c.14939C>T , LRG_766t1:c.14939C>T	NP_000531.2:p.Thr4980Met
NM_001042723.1:c.14924C>T	NP_001036188.1:p.Thr4975Met
XM_006723317.1:c.14921C>T	XP_006723380.1:p.Thr4974Met
XM_006723319.1:c.14906C>T	XP_006723382.1:p.Thr4969Met
XM_011527204.1:c.14936C>T	XP_011525506.1:p.Thr4979Met
XM_011527205.1:c.14852C>T	XP_011525507.1:p.Thr4951Met
XM_006723317.2:c.14921C>T	XP_006723380.1:p.Thr4974Met
XM_006723319.2:c.14906C>T	XP_006723382.1:p.Thr4969Met
XM_011527205.2:c.14852C>T	XP_011525507.1:p.Thr4951Met
NM_000540.3:c.14939C>T MANE Select	NP_000531.2:p.Thr4980Met
NM_001042723.2:c.14924C>T	NP_001036188.1:p.Thr4975Met