Canonical Allele Identifier: CA073441

Gene: RYR1

Linked Data

• ClinVar Variation Id: 329087
• ClinVar RCV Id: RCV000265326 ; RCV000268916 ; RCV000304062 ; RCV000361218 ; RCV000721733 ; RCV001087825
• dbSNP Id: rs56338790
• ExAC: 19:39002912 C / T
• gnomAD v2: 19-39002912-C-T
• gnomAD v3: 19-38512272-C-T
• gnomAD v4: 19-38512272-C-T
• COSMIC: COSM3692722
• MyVariant Identifiers: chr19:g.39002912C>T (hg19) ; chr19:g.38512272C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38512272C>T , CM000681.2:g.38512272C>T	GRCh38
NC_000019.9:g.39002912C>T , CM000681.1:g.39002912C>T	GRCh37
NC_000019.8:g.43694752C>T	NCBI36
NG_008866.1:g.83573C>T , LRG_766:g.83573C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.9200C>T	ENSP00000471601.2:n.9200C>T
ENST00000359596.8:c.9261C>T MANE Select	ENSP00000352608.2:p.Ile3087=
ENST00000355481.8:c.9261C>T	ENSP00000347667.3:p.Ile3087=
ENST00000359596.7:c.9261C>T	ENSP00000352608.2:p.Ile3087=
ENST00000360985.7:c.9258C>T	ENSP00000354254.4:p.Ile3086=
ENST00000594335.5:c.2663C>T
ENST00000599547.5:c.68C>T
NM_000540.2:c.9261C>T , LRG_766t1:c.9261C>T	NP_000531.2:p.Ile3087=
NM_001042723.1:c.9261C>T	NP_001036188.1:p.Ile3087=
XM_006723317.1:c.9261C>T	XP_006723380.1:p.Ile3087=
XM_006723319.1:c.9261C>T	XP_006723382.1:p.Ile3087=
XM_011527204.1:c.9258C>T	XP_011525506.1:p.Ile3086=
XM_011527205.1:c.9261C>T	XP_011525507.1:p.Ile3087=
XM_006723317.2:c.9261C>T	XP_006723380.1:p.Ile3087=
XM_006723319.2:c.9261C>T	XP_006723382.1:p.Ile3087=
XM_011527205.2:c.9261C>T	XP_011525507.1:p.Ile3087=
XR_001753735.1:n.9294C>T
NM_000540.3:c.9261C>T MANE Select	NP_000531.2:p.Ile3087=
NM_001042723.2:c.9261C>T	NP_001036188.1:p.Ile3087=