Canonical Allele Identifier: CA024082

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65943
• ClinVar RCV Id: RCV000056190 ; RCV000119489 ; RCV000687662
• dbSNP Id: rs118192136
• MyVariant Identifiers: chr19:g.39062824G>A (hg19) ; chr19:g.38572184G>A (hg38)
• PubMed: PMID:16621918 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572184G>A , CM000681.2:g.38572184G>A	GRCh38
NC_000019.9:g.39062824G>A , CM000681.1:g.39062824G>A	GRCh37
NC_000019.8:g.43754664G>A	NCBI36
NG_008866.1:g.143485G>A , LRG_766:g.143485G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.848G>A
ENST00000688602.1:c.2245G>A
ENST00000689936.1:c.2217G>A
ENST00000359596.8:c.13912G>A MANE Select	ENSP00000352608.2:p.Gly4638Ser
ENST00000355481.8:c.13897G>A	ENSP00000347667.3:p.Gly4633Ser
ENST00000359596.7:c.13912G>A	ENSP00000352608.2:p.Gly4638Ser
ENST00000360985.7:c.13894G>A	ENSP00000354254.4:p.Gly4632Ser
ENST00000593677.1:c.372G>A
NM_000540.2:c.13912G>A , LRG_766t1:c.13912G>A	NP_000531.2:p.Gly4638Ser
NM_001042723.1:c.13897G>A	NP_001036188.1:p.Gly4633Ser
XM_006723317.1:c.13894G>A	XP_006723380.1:p.Gly4632Ser
XM_006723319.1:c.13879G>A	XP_006723382.1:p.Gly4627Ser
XM_011527204.1:c.13909G>A	XP_011525506.1:p.Gly4637Ser
XM_011527205.1:c.13825G>A	XP_011525507.1:p.Gly4609Ser
XM_006723317.2:c.13894G>A	XP_006723380.1:p.Gly4632Ser
XM_006723319.2:c.13879G>A	XP_006723382.1:p.Gly4627Ser
XM_011527205.2:c.13825G>A	XP_011525507.1:p.Gly4609Ser
NM_000540.3:c.13912G>A MANE Select	NP_000531.2:p.Gly4638Ser
NM_001042723.2:c.13897G>A	NP_001036188.1:p.Gly4633Ser