Canonical Allele Identifier: CA2584909163

Gene: RYR1

Linked Data

• gnomAD v4: 19-38565555-TGCCAGCGAGGGCGCTGGAGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565559_38565579del , CM000681.2:g.38565559_38565579del	GRCh38
NC_000019.9:g.39056199_39056219del , CM000681.1:g.39056199_39056219del	GRCh37
NC_000019.8:g.43748039_43748059del	NCBI36
NG_008866.1:g.136860_136880del , LRG_766:g.136860_136880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.161_181del
ENST00000688602.1:c.1635_1655del
ENST00000689936.1:c.1617_1637del
ENST00000359596.8:c.13225_13245del MANE Select	ENSP00000352608.2:p.Ser4409_Ala4415del
ENST00000355481.8:c.13210_13230del	ENSP00000347667.3:p.Ser4404_Ala4410del
ENST00000359596.7:c.13225_13245del	ENSP00000352608.2:p.Ser4409_Ala4415del
ENST00000360985.7:c.13207_13227del	ENSP00000354254.4:p.Ser4403_Ala4409del
NM_000540.2:c.13225_13245del , LRG_766t1:c.13225_13245del	NP_000531.2:p.Ser4409_Ala4415del
NM_001042723.1:c.13210_13230del	NP_001036188.1:p.Ser4404_Ala4410del
XM_006723317.1:c.13207_13227del	XP_006723380.1:p.Ser4403_Ala4409del
XM_006723319.1:c.13192_13212del	XP_006723382.1:p.Ser4398_Ala4404del
XM_011527204.1:c.13222_13242del	XP_011525506.1:p.Ser4408_Ala4414del
XM_011527205.1:c.13225_13245del	XP_011525507.1:p.Ser4409_Ala4415del
XM_006723317.2:c.13207_13227del	XP_006723380.1:p.Ser4403_Ala4409del
XM_006723319.2:c.13192_13212del	XP_006723382.1:p.Ser4398_Ala4404del
XM_011527205.2:c.13225_13245del	XP_011525507.1:p.Ser4409_Ala4415del
NM_000540.3:c.13225_13245del MANE Select	NP_000531.2:p.Ser4409_Ala4415del
NM_001042723.2:c.13210_13230del	NP_001036188.1:p.Ser4404_Ala4410del