Canonical Allele Identifier: CA405690476

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2435529
• ClinVar RCV Id: RCV003135831
• MyVariant Identifiers: chr19:g.39075649C>T (hg19) ; chr19:g.38585009C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1649C>T
ENST00000688602.1:c.3046C>T
ENST00000689936.1:c.3018C>T
ENST00000692547.1:n.106C>T
ENST00000359596.8:c.14713C>T MANE Select	ENSP00000352608.2:p.Pro4905Ser
ENST00000355481.8:c.14698C>T	ENSP00000347667.3:p.Pro4900Ser
ENST00000359596.7:c.14713C>T	ENSP00000352608.2:p.Pro4905Ser
ENST00000360985.7:c.14695C>T	ENSP00000354254.4:p.Pro4899Ser
NM_000540.2:c.14713C>T , LRG_766t1:c.14713C>T	NP_000531.2:p.Pro4905Ser
NM_001042723.1:c.14698C>T	NP_001036188.1:p.Pro4900Ser
XM_006723317.1:c.14695C>T	XP_006723380.1:p.Pro4899Ser
XM_006723319.1:c.14680C>T	XP_006723382.1:p.Pro4894Ser
XM_011527204.1:c.14710C>T	XP_011525506.1:p.Pro4904Ser
XM_011527205.1:c.14626C>T	XP_011525507.1:p.Pro4876Ser
XM_006723317.2:c.14695C>T	XP_006723380.1:p.Pro4899Ser
XM_006723319.2:c.14680C>T	XP_006723382.1:p.Pro4894Ser
XM_011527205.2:c.14626C>T	XP_011525507.1:p.Pro4876Ser
NM_000540.3:c.14713C>T MANE Select	NP_000531.2:p.Pro4905Ser
NM_001042723.2:c.14698C>T	NP_001036188.1:p.Pro4900Ser