Canonical Allele Identifier: CA081038

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1505357
• ClinVar RCV Id: RCV002004022
• dbSNP Id: rs2145870253
• gnomAD v4: 19-38572209-G-A
• MyVariant Identifiers: chr19:g.39062849G>A (hg19) ; chr19:g.38572209G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572209G>A , CM000681.2:g.38572209G>A	GRCh38
NC_000019.9:g.39062849G>A , CM000681.1:g.39062849G>A	GRCh37
NC_000019.8:g.43754689G>A	NCBI36
NG_008866.1:g.143510G>A , LRG_766:g.143510G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.873G>A
ENST00000688602.1:c.2270G>A
ENST00000689936.1:c.2242G>A
ENST00000359596.8:c.13937G>A MANE Select	ENSP00000352608.2:p.Cys4646Tyr
ENST00000355481.8:c.13922G>A	ENSP00000347667.3:p.Cys4641Tyr
ENST00000359596.7:c.13937G>A	ENSP00000352608.2:p.Cys4646Tyr
ENST00000360985.7:c.13919G>A	ENSP00000354254.4:p.Cys4640Tyr
ENST00000593677.1:c.397G>A
NM_000540.2:c.13937G>A , LRG_766t1:c.13937G>A	NP_000531.2:p.Cys4646Tyr
NM_001042723.1:c.13922G>A	NP_001036188.1:p.Cys4641Tyr
XM_006723317.1:c.13919G>A	XP_006723380.1:p.Cys4640Tyr
XM_006723319.1:c.13904G>A	XP_006723382.1:p.Cys4635Tyr
XM_011527204.1:c.13934G>A	XP_011525506.1:p.Cys4645Tyr
XM_011527205.1:c.13850G>A	XP_011525507.1:p.Cys4617Tyr
XM_006723317.2:c.13919G>A	XP_006723380.1:p.Cys4640Tyr
XM_006723319.2:c.13904G>A	XP_006723382.1:p.Cys4635Tyr
XM_011527205.2:c.13850G>A	XP_011525507.1:p.Cys4617Tyr
NM_000540.3:c.13937G>A MANE Select	NP_000531.2:p.Cys4646Tyr
NM_001042723.2:c.13922G>A	NP_001036188.1:p.Cys4641Tyr