Canonical Allele Identifier: CA056599

Gene: RYR1

Linked Data

• ClinVar Variation Id: 256401
• ClinVar RCV Id: RCV000243303 ; RCV001131438 ; RCV001131437 ; RCV001131439 ; RCV002057370
• dbSNP Id: rs540088883
• ExAC: 19:39025347 C / T
• gnomAD v2: 19-39025347-C-T
• gnomAD v3: 19-38534707-C-T
• gnomAD v4: 19-38534707-C-T
• MyVariant Identifiers: chr19:g.39025347C>T (hg19) ; chr19:g.38534707C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38534707C>T , CM000681.2:g.38534707C>T	GRCh38
NC_000019.9:g.39025347C>T , CM000681.1:g.39025347C>T	GRCh37
NC_000019.8:g.43717187C>T	NCBI36
NG_008866.1:g.106008C>T , LRG_766:g.106008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.11199-13C>T	ENSP00000471601.2:n.11199-13C>T
ENST00000359596.8:c.11260-13C>T MANE Select	ENSP00000352608.2:n.11260-13C>T
ENST00000355481.8:c.11245-13C>T	ENSP00000347667.3:n.11245-13C>T
ENST00000359596.7:c.11260-13C>T	ENSP00000352608.2:n.11260-13C>T
ENST00000360985.7:c.11242-13C>T	ENSP00000354254.4:n.11242-13C>T
ENST00000594335.5:c.4647-13C>T
ENST00000599547.5:c.2067-13C>T
ENST00000601514.5:c.541-13C>T	ENSP00000472497.1:n.541-13C>T
NM_000540.2:c.11260-13C>T , LRG_766t1:c.11260-13C>T	NP_000531.2:n.11260-13C>T
NM_001042723.1:c.11245-13C>T	NP_001036188.1:n.11245-13C>T
XM_006723317.1:c.11260-13C>T	XP_006723380.1:n.11260-13C>T
XM_006723319.1:c.11245-13C>T	XP_006723382.1:n.11245-13C>T
XM_011527204.1:c.11257-13C>T	XP_011525506.1:n.11257-13C>T
XM_011527205.1:c.11260-13C>T	XP_011525507.1:n.11260-13C>T
XM_006723317.2:c.11260-13C>T	XP_006723380.1:n.11260-13C>T
XM_006723319.2:c.11245-13C>T	XP_006723382.1:n.11245-13C>T
XM_011527205.2:c.11260-13C>T	XP_011525507.1:n.11260-13C>T
NM_000540.3:c.11260-13C>T MANE Select	NP_000531.2:n.11260-13C>T
NM_001042723.2:c.11245-13C>T	NP_001036188.1:n.11245-13C>T