Canonical Allele Identifier: CA632870790

Gene: RYR1

Linked Data

• dbSNP Id: rs1266992126
• gnomAD v2: 19-38937699-TAAATA-T
• gnomAD v3: 19-38447059-TAAATA-T
• gnomAD v4: 19-38447059-TAAATA-T
• MyVariant Identifiers: chr19:g.38937700_38937704del (hg19) ; chr19:g.38447060_38447064del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38447067_38447071del , CM000681.2:g.38447067_38447071del	GRCh38
NC_000019.9:g.38937707_38937711del , CM000681.1:g.38937707_38937711del	GRCh37
NC_000019.8:g.43629547_43629551del	NCBI36
NG_008866.1:g.18368_18372del , LRG_766:g.18368_18372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.800+299_800+303del	ENSP00000471601.2:n.800+299_800+303del
ENST00000359596.8:c.800+299_800+303del MANE Select	ENSP00000352608.2:n.800+299_800+303del
ENST00000355481.8:c.800+299_800+303del	ENSP00000347667.3:n.800+299_800+303del
ENST00000359596.7:c.800+299_800+303del	ENSP00000352608.2:n.800+299_800+303del
ENST00000360985.7:c.800+299_800+303del	ENSP00000354254.4:n.800+299_800+303del
NM_000540.2:c.800+299_800+303del , LRG_766t1:c.800+299_800+303del	NP_000531.2:n.800+299_800+303del
NM_001042723.1:c.800+299_800+303del	NP_001036188.1:n.800+299_800+303del
XM_006723317.1:c.800+299_800+303del	XP_006723380.1:n.800+299_800+303del
XM_006723319.1:c.800+299_800+303del	XP_006723382.1:n.800+299_800+303del
XM_011527204.1:c.800+299_800+303del	XP_011525506.1:n.800+299_800+303del
XM_011527205.1:c.800+299_800+303del	XP_011525507.1:n.800+299_800+303del
XM_006723317.2:c.800+299_800+303del	XP_006723380.1:n.800+299_800+303del
XM_006723319.2:c.800+299_800+303del	XP_006723382.1:n.800+299_800+303del
XM_011527205.2:c.800+299_800+303del	XP_011525507.1:n.800+299_800+303del
XR_001753735.1:n.883+299_883+303del
NM_000540.3:c.800+299_800+303del MANE Select	NP_000531.2:n.800+299_800+303del
NM_001042723.2:c.800+299_800+303del	NP_001036188.1:n.800+299_800+303del