Canonical Allele Identifier: CA060718

Gene: RYR1

Linked Data

• dbSNP Id: rs770005426
• ExAC: 19:39062959 GGGT / G
• MyVariant Identifiers: chr19:g.39062960_39062962del (hg19) ; chr19:g.38572320_38572322del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572322_38572324del , CM000681.2:g.38572322_38572324del	GRCh38
NC_000019.9:g.39062962_39062964del , CM000681.1:g.39062962_39062964del	GRCh37
NC_000019.8:g.43754802_43754804del	NCBI36
NG_008866.1:g.143623_143625del , LRG_766:g.143623_143625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.934+52_934+54del
ENST00000688602.1:c.2331+52_2331+54del
ENST00000689936.1:c.2303+52_2303+54del
ENST00000359596.8:c.13998+52_13998+54del MANE Select	ENSP00000352608.2:n.13998+52_13998+54del
ENST00000355481.8:c.13983+52_13983+54del	ENSP00000347667.3:n.13983+52_13983+54del
ENST00000359596.7:c.13998+52_13998+54del	ENSP00000352608.2:n.13998+52_13998+54del
ENST00000360985.7:c.13980+52_13980+54del	ENSP00000354254.4:n.13980+52_13980+54del
NM_000540.2:c.13998+52_13998+54del , LRG_766t1:c.13998+52_13998+54del	NP_000531.2:n.13998+52_13998+54del
NM_001042723.1:c.13983+52_13983+54del	NP_001036188.1:n.13983+52_13983+54del
XM_006723317.1:c.13980+52_13980+54del	XP_006723380.1:n.13980+52_13980+54del
XM_006723319.1:c.13965+52_13965+54del	XP_006723382.1:n.13965+52_13965+54del
XM_011527204.1:c.13995+52_13995+54del	XP_011525506.1:n.13995+52_13995+54del
XM_011527205.1:c.13911+52_13911+54del	XP_011525507.1:n.13911+52_13911+54del
XM_006723317.2:c.13980+52_13980+54del	XP_006723380.1:n.13980+52_13980+54del
XM_006723319.2:c.13965+52_13965+54del	XP_006723382.1:n.13965+52_13965+54del
XM_011527205.2:c.13911+52_13911+54del	XP_011525507.1:n.13911+52_13911+54del
NM_000540.3:c.13998+52_13998+54del MANE Select	NP_000531.2:n.13998+52_13998+54del
NM_001042723.2:c.13983+52_13983+54del	NP_001036188.1:n.13983+52_13983+54del