Canonical Allele Identifier: CA658799201

Gene: RYR1

Linked Data

• ClinVar Variation Id: 544441
• ClinVar RCV Id: RCV000655582
• dbSNP Id: rs1555803920
• MyVariant Identifiers: chr19:g.39071039_39071041del (hg19) ; chr19:g.38580399_38580401del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580399_38580401del , CM000681.2:g.38580399_38580401del	GRCh38
NC_000019.9:g.39071039_39071041del , CM000681.1:g.39071039_39071041del	GRCh37
NC_000019.8:g.43762879_43762881del	NCBI36
NG_008866.1:g.151700_151702del , LRG_766:g.151700_151702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1477_1479del
ENST00000688602.1:c.2874_2876del
ENST00000689936.1:c.2846_2848del
ENST00000359596.8:c.14541_14543del MANE Select	ENSP00000352608.2:p.Val4848del
ENST00000355481.8:c.14526_14528del	ENSP00000347667.3:p.Val4843del
ENST00000359596.7:c.14541_14543del	ENSP00000352608.2:p.Val4848del
ENST00000360985.7:c.14523_14525del	ENSP00000354254.4:p.Val4842del
NM_000540.2:c.14541_14543del , LRG_766t1:c.14541_14543del	NP_000531.2:p.Val4848del
NM_001042723.1:c.14526_14528del	NP_001036188.1:p.Val4843del
XM_006723317.1:c.14523_14525del	XP_006723380.1:p.Val4842del
XM_006723319.1:c.14508_14510del	XP_006723382.1:p.Val4837del
XM_011527204.1:c.14538_14540del	XP_011525506.1:p.Val4847del
XM_011527205.1:c.14454_14456del	XP_011525507.1:p.Val4819del
XM_006723317.2:c.14523_14525del	XP_006723380.1:p.Val4842del
XM_006723319.2:c.14508_14510del	XP_006723382.1:p.Val4837del
XM_011527205.2:c.14454_14456del	XP_011525507.1:p.Val4819del
NM_000540.3:c.14541_14543del MANE Select	NP_000531.2:p.Val4848del
NM_001042723.2:c.14526_14528del	NP_001036188.1:p.Val4843del