Canonical Allele Identifier: CA074235

Gene: RYR1

Linked Data

• ClinVar Variation Id: 544426
• ClinVar RCV Id: RCV000655563 ; RCV000721760 ; RCV002307581 ; RCV002499131
• dbSNP Id: rs201276068
• ExAC: 19:39008172 C / T
• gnomAD v2: 19-39008172-C-T
• gnomAD v3: 19-38517532-C-T
• gnomAD v4: 19-38517532-C-T
• COSMIC: COSM439414
• MyVariant Identifiers: chr19:g.39008172C>T (hg19) ; chr19:g.38517532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517532C>T , CM000681.2:g.38517532C>T	GRCh38
NC_000019.9:g.39008172C>T , CM000681.1:g.39008172C>T	GRCh37
NC_000019.8:g.43700012C>T	NCBI36
NG_008866.1:g.88833C>T , LRG_766:g.88833C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9798C>T	ENSP00000471601.2:n.9798C>T
ENST00000359596.8:c.9859C>T MANE Select	ENSP00000352608.2:p.Arg3287Cys
ENST00000355481.8:c.9859C>T	ENSP00000347667.3:p.Arg3287Cys
ENST00000359596.7:c.9859C>T	ENSP00000352608.2:p.Arg3287Cys
ENST00000360985.7:c.9856C>T	ENSP00000354254.4:p.Arg3286Cys
ENST00000594335.5:c.3261C>T
ENST00000599547.5:c.666C>T
NM_000540.2:c.9859C>T , LRG_766t1:c.9859C>T	NP_000531.2:p.Arg3287Cys
NM_001042723.1:c.9859C>T	NP_001036188.1:p.Arg3287Cys
XM_006723317.1:c.9859C>T	XP_006723380.1:p.Arg3287Cys
XM_006723319.1:c.9859C>T	XP_006723382.1:p.Arg3287Cys
XM_011527204.1:c.9856C>T	XP_011525506.1:p.Arg3286Cys
XM_011527205.1:c.9859C>T	XP_011525507.1:p.Arg3287Cys
XM_006723317.2:c.9859C>T	XP_006723380.1:p.Arg3287Cys
XM_006723319.2:c.9859C>T	XP_006723382.1:p.Arg3287Cys
XM_011527205.2:c.9859C>T	XP_011525507.1:p.Arg3287Cys
NM_000540.3:c.9859C>T MANE Select	NP_000531.2:p.Arg3287Cys
NM_001042723.2:c.9859C>T	NP_001036188.1:p.Arg3287Cys