Canonical Allele Identifier: CA10651893

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329125
• ClinVar RCV Id: RCV000308549 ; RCV000311809 ; RCV000352821 ; RCV000392811 ; RCV002502270 ; RCV002521225
• dbSNP Id: rs886054407
• gnomAD v3: 19-38565676-C-T
• gnomAD v4: 19-38565676-C-T
• MyVariant Identifiers: chr19:g.39056316C>T (hg19) ; chr19:g.38565676C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565676C>T , CM000681.2:g.38565676C>T	GRCh38
NC_000019.9:g.39056316C>T , CM000681.1:g.39056316C>T	GRCh37
NC_000019.8:g.43748156C>T	NCBI36
NG_008866.1:g.136977C>T , LRG_766:g.136977C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.278C>T
ENST00000688602.1:c.1752C>T
ENST00000689936.1:c.1734C>T
ENST00000359596.8:c.13342C>T MANE Select	ENSP00000352608.2:p.Pro4448Ser
ENST00000355481.8:c.13327C>T	ENSP00000347667.3:p.Pro4443Ser
ENST00000359596.7:c.13342C>T	ENSP00000352608.2:p.Pro4448Ser
ENST00000360985.7:c.13324C>T	ENSP00000354254.4:p.Pro4442Ser
NM_000540.2:c.13342C>T , LRG_766t1:c.13342C>T	NP_000531.2:p.Pro4448Ser
NM_001042723.1:c.13327C>T	NP_001036188.1:p.Pro4443Ser
XM_006723317.1:c.13324C>T	XP_006723380.1:p.Pro4442Ser
XM_006723319.1:c.13309C>T	XP_006723382.1:p.Pro4437Ser
XM_011527204.1:c.13339C>T	XP_011525506.1:p.Pro4447Ser
XM_011527205.1:c.13342C>T	XP_011525507.1:p.Pro4448Ser
XM_006723317.2:c.13324C>T	XP_006723380.1:p.Pro4442Ser
XM_006723319.2:c.13309C>T	XP_006723382.1:p.Pro4437Ser
XM_011527205.2:c.13342C>T	XP_011525507.1:p.Pro4448Ser
NM_000540.3:c.13342C>T MANE Select	NP_000531.2:p.Pro4448Ser
NM_001042723.2:c.13327C>T	NP_001036188.1:p.Pro4443Ser