Canonical Allele Identifier: CA16043558

Gene: RYR1

Linked Data

• ClinVar Variation Id: 374142
• ClinVar RCV Id: RCV000414988
• dbSNP Id: rs1057518924
• MyVariant Identifiers: chr19:g.39075649C>A (hg19) ; chr19:g.38585009C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585009C>A , CM000681.2:g.38585009C>A	GRCh38
NC_000019.9:g.39075649C>A , CM000681.1:g.39075649C>A	GRCh37
NC_000019.8:g.43767489C>A	NCBI36
NG_008866.1:g.156310C>A , LRG_766:g.156310C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1649C>A
ENST00000688602.1:c.3046C>A
ENST00000689936.1:c.3018C>A
ENST00000692547.1:n.106C>A
ENST00000359596.8:c.14713C>A MANE Select	ENSP00000352608.2:p.Pro4905Thr
ENST00000355481.8:c.14698C>A	ENSP00000347667.3:p.Pro4900Thr
ENST00000359596.7:c.14713C>A	ENSP00000352608.2:p.Pro4905Thr
ENST00000360985.7:c.14695C>A	ENSP00000354254.4:p.Pro4899Thr
NM_000540.2:c.14713C>A , LRG_766t1:c.14713C>A	NP_000531.2:p.Pro4905Thr
NM_001042723.1:c.14698C>A	NP_001036188.1:p.Pro4900Thr
XM_006723317.1:c.14695C>A	XP_006723380.1:p.Pro4899Thr
XM_006723319.1:c.14680C>A	XP_006723382.1:p.Pro4894Thr
XM_011527204.1:c.14710C>A	XP_011525506.1:p.Pro4904Thr
XM_011527205.1:c.14626C>A	XP_011525507.1:p.Pro4876Thr
XM_006723317.2:c.14695C>A	XP_006723380.1:p.Pro4899Thr
XM_006723319.2:c.14680C>A	XP_006723382.1:p.Pro4894Thr
XM_011527205.2:c.14626C>A	XP_011525507.1:p.Pro4876Thr
NM_000540.3:c.14713C>A MANE Select	NP_000531.2:p.Pro4905Thr
NM_001042723.2:c.14698C>A	NP_001036188.1:p.Pro4900Thr