Canonical Allele Identifier: CA073824

Gene: RYR1

Linked Data

• ClinVar Variation Id: 193600
• ClinVar RCV Id: RCV000173706 ; RCV000655587 ; RCV000721748 ; RCV002281998 ; RCV003993854
• dbSNP Id: rs794726982
• ExAC: 19:38939152 GTCAGTGGGGTTTGTGGCGCCCTCCC / G
• gnomAD v2: 19-38939152-GTCAGTGGGGTTTGTGGCGCCCTCCC-G
• gnomAD v3: 19-38448512-GTCAGTGGGGTTTGTGGCGCCCTCCC-G
• gnomAD v4: 19-38448512-GTCAGTGGGGTTTGTGGCGCCCTCCC-G
• MyVariant Identifiers: chr19:g.38939156_38939180del (hg19) ; chr19:g.38939153_38939177del (hg19) ; chr19:g.38448516_38448540del (hg38) ; chr19:g.38448513_38448537del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38448516_38448540del , CM000681.2:g.38448516_38448540del	GRCh38
NC_000019.9:g.38939156_38939180del , CM000681.1:g.38939156_38939180del	GRCh37
NC_000019.8:g.43630996_43631020del	NCBI36
NG_008866.1:g.19817_19841del , LRG_766:g.19817_19841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.957+5_957+29del	ENSP00000471601.2:n.957+5_957+29del
ENST00000359596.8:c.957+5_957+29del MANE Select	ENSP00000352608.2:n.957+5_957+29del
ENST00000355481.8:c.957+5_957+29del	ENSP00000347667.3:n.957+5_957+29del
ENST00000359596.7:c.957+5_957+29del	ENSP00000352608.2:n.957+5_957+29del
ENST00000360985.7:c.957+5_957+29del	ENSP00000354254.4:n.957+5_957+29del
NM_000540.2:c.957+5_957+29del , LRG_766t1:c.957+5_957+29del	NP_000531.2:n.957+5_957+29del
NM_001042723.1:c.957+5_957+29del	NP_001036188.1:n.957+5_957+29del
XM_006723317.1:c.957+5_957+29del	XP_006723380.1:n.957+5_957+29del
XM_006723319.1:c.957+5_957+29del	XP_006723382.1:n.957+5_957+29del
XM_011527204.1:c.954+5_954+29del	XP_011525506.1:n.954+5_954+29del
XM_011527205.1:c.957+5_957+29del	XP_011525507.1:n.957+5_957+29del
XM_006723317.2:c.957+5_957+29del	XP_006723380.1:n.957+5_957+29del
XM_006723319.2:c.957+5_957+29del	XP_006723382.1:n.957+5_957+29del
XM_011527205.2:c.957+5_957+29del	XP_011525507.1:n.957+5_957+29del
XR_001753735.1:n.1040+5_1040+29del
NM_000540.3:c.957+5_957+29del MANE Select	NP_000531.2:n.957+5_957+29del
NM_001042723.2:c.957+5_957+29del	NP_001036188.1:n.957+5_957+29del