Canonical Allele Identifier: CA024069

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65959
• ClinVar RCV Id: RCV000056206 ; RCV000119484 ; RCV001066791
• dbSNP Id: rs118192131
• MyVariant Identifiers: chr19:g.39061290T>C (hg19) ; chr19:g.38570650T>C (hg38)
• PubMed: PMID:16621918 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38570650T>C , CM000681.2:g.38570650T>C	GRCh38
NC_000019.9:g.39061290T>C , CM000681.1:g.39061290T>C	GRCh37
NC_000019.8:g.43753130T>C	NCBI36
NG_008866.1:g.141951T>C , LRG_766:g.141951T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.639T>C
ENST00000688602.1:c.2036T>C
ENST00000689936.1:c.2052-1369T>C
ENST00000359596.8:c.13703T>C MANE Select	ENSP00000352608.2:p.Leu4568Pro
ENST00000355481.8:c.13688T>C	ENSP00000347667.3:p.Leu4563Pro
ENST00000359596.7:c.13703T>C	ENSP00000352608.2:p.Leu4568Pro
ENST00000360985.7:c.13685T>C	ENSP00000354254.4:p.Leu4562Pro
ENST00000593677.1:c.207-1369T>C
NM_000540.2:c.13703T>C , LRG_766t1:c.13703T>C	NP_000531.2:p.Leu4568Pro
NM_001042723.1:c.13688T>C	NP_001036188.1:p.Leu4563Pro
XM_006723317.1:c.13685T>C	XP_006723380.1:p.Leu4562Pro
XM_006723319.1:c.13670T>C	XP_006723382.1:p.Leu4557Pro
XM_011527204.1:c.13700T>C	XP_011525506.1:p.Leu4567Pro
XM_011527205.1:c.13660-1369T>C	XP_011525507.1:n.13660-1369T>C
XM_006723317.2:c.13685T>C	XP_006723380.1:p.Leu4562Pro
XM_006723319.2:c.13670T>C	XP_006723382.1:p.Leu4557Pro
XM_011527205.2:c.13660-1369T>C	XP_011525507.1:n.13660-1369T>C
NM_000540.3:c.13703T>C MANE Select	NP_000531.2:p.Leu4568Pro
NM_001042723.2:c.13688T>C	NP_001036188.1:p.Leu4563Pro