Canonical Allele Identifier: CA633066819

Gene: RYR1

Linked Data

• dbSNP Id: rs1385285952
• gnomAD v2: 19-39056087-CAAG-C
• gnomAD v4: 19-38565447-CAAG-C
• MyVariant Identifiers: chr19:g.39056088_39056090del (hg19) ; chr19:g.38565448_38565450del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565451_38565453del , CM000681.2:g.38565451_38565453del	GRCh38
NC_000019.9:g.39056091_39056093del , CM000681.1:g.39056091_39056093del	GRCh37
NC_000019.8:g.43747931_43747933del	NCBI36
NG_008866.1:g.136752_136754del , LRG_766:g.136752_136754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.53_55del
ENST00000688602.1:c.1527_1529del
ENST00000689936.1:c.1509_1511del
ENST00000359596.8:c.13117_13119del MANE Select	ENSP00000352608.2:p.Lys4373del
ENST00000355481.8:c.13102_13104del	ENSP00000347667.3:p.Lys4368del
ENST00000359596.7:c.13117_13119del	ENSP00000352608.2:p.Lys4373del
ENST00000360985.7:c.13099_13101del	ENSP00000354254.4:p.Lys4367del
NM_000540.2:c.13117_13119del , LRG_766t1:c.13117_13119del	NP_000531.2:p.Lys4373del
NM_001042723.1:c.13102_13104del	NP_001036188.1:p.Lys4368del
XM_006723317.1:c.13099_13101del	XP_006723380.1:p.Lys4367del
XM_006723319.1:c.13084_13086del	XP_006723382.1:p.Lys4362del
XM_011527204.1:c.13114_13116del	XP_011525506.1:p.Lys4372del
XM_011527205.1:c.13117_13119del	XP_011525507.1:p.Lys4373del
XM_006723317.2:c.13099_13101del	XP_006723380.1:p.Lys4367del
XM_006723319.2:c.13084_13086del	XP_006723382.1:p.Lys4362del
XM_011527205.2:c.13117_13119del	XP_011525507.1:p.Lys4373del
NM_000540.3:c.13117_13119del MANE Select	NP_000531.2:p.Lys4373del
NM_001042723.2:c.13102_13104del	NP_001036188.1:p.Lys4368del