Canonical Allele Identifier: CA405686944

Gene: RYR1

Linked Data

• ClinVar Variation Id: 503752
• ClinVar RCV Id: RCV000598890 ; RCV001258222 ; RCV002289892 ; RCV003591756
• dbSNP Id: rs1555767403
• MyVariant Identifiers: chr19:g.38943656T>G (hg19) ; chr19:g.38453016T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38453016T>G , CM000681.2:g.38453016T>G	GRCh38
NC_000019.9:g.38943656T>G , CM000681.1:g.38943656T>G	GRCh37
NC_000019.8:g.43635496T>G	NCBI36
NG_008866.1:g.24317T>G , LRG_766:g.24317T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1440+2T>G	ENSP00000471601.2:n.1440+2T>G
ENST00000359596.8:c.1440+2T>G MANE Select	ENSP00000352608.2:n.1440+2T>G
ENST00000355481.8:c.1440+2T>G	ENSP00000347667.3:n.1440+2T>G
ENST00000359596.7:c.1440+2T>G	ENSP00000352608.2:n.1440+2T>G
ENST00000360985.7:c.1440+2T>G	ENSP00000354254.4:n.1440+2T>G
NM_000540.2:c.1440+2T>G , LRG_766t1:c.1440+2T>G	NP_000531.2:n.1440+2T>G
NM_001042723.1:c.1440+2T>G	NP_001036188.1:n.1440+2T>G
XM_006723317.1:c.1440+2T>G	XP_006723380.1:n.1440+2T>G
XM_006723319.1:c.1440+2T>G	XP_006723382.1:n.1440+2T>G
XM_011527204.1:c.1437+2T>G	XP_011525506.1:n.1437+2T>G
XM_011527205.1:c.1440+2T>G	XP_011525507.1:n.1440+2T>G
XM_006723317.2:c.1440+2T>G	XP_006723380.1:n.1440+2T>G
XM_006723319.2:c.1440+2T>G	XP_006723382.1:n.1440+2T>G
XM_011527205.2:c.1440+2T>G	XP_011525507.1:n.1440+2T>G
XR_001753735.1:n.1523+2T>G
NM_000540.3:c.1440+2T>G MANE Select	NP_000531.2:n.1440+2T>G
NM_001042723.2:c.1440+2T>G	NP_001036188.1:n.1440+2T>G