Canonical Allele Identifier: CA891863129

Gene: RYR1

Linked Data

• ClinVar Variation Id: 590426
• ClinVar RCV Id: RCV000721308
• dbSNP Id: rs1568583728
• gnomAD v4: 19-38565551-AG-A
• MyVariant Identifiers: chr19:g.39056194del (hg19) ; chr19:g.38565554del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565554del , CM000681.2:g.38565554del	GRCh38
NC_000019.9:g.39056194del , CM000681.1:g.39056194del	GRCh37
NC_000019.8:g.43748034del	NCBI36
NG_008866.1:g.136855del , LRG_766:g.136855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.156del
ENST00000688602.1:c.1630del
ENST00000689936.1:c.1612del
ENST00000359596.8:c.13220del MANE Select	ENSP00000352608.2:p.Gly4407ValfsTer?
ENST00000355481.8:c.13205del	ENSP00000347667.3:p.Gly4402ValfsTer?
ENST00000359596.7:c.13220del	ENSP00000352608.2:p.Gly4407ValfsTer?
ENST00000360985.7:c.13202del	ENSP00000354254.4:p.Gly4401ValfsTer?
NM_000540.2:c.13220del , LRG_766t1:c.13220del	NP_000531.2:p.Gly4407ValfsTer?
NM_001042723.1:c.13205del	NP_001036188.1:p.Gly4402ValfsTer?
XM_006723317.1:c.13202del	XP_006723380.1:p.Gly4401ValfsTer?
XM_006723319.1:c.13187del	XP_006723382.1:p.Gly4396ValfsTer?
XM_011527204.1:c.13217del	XP_011525506.1:p.Gly4406ValfsTer?
XM_011527205.1:c.13220del	XP_011525507.1:p.Gly4407ValfsTer?
XM_006723317.2:c.13202del	XP_006723380.1:p.Gly4401ValfsTer?
XM_006723319.2:c.13187del	XP_006723382.1:p.Gly4396ValfsTer?
XM_011527205.2:c.13220del	XP_011525507.1:p.Gly4407ValfsTer?
NM_000540.3:c.13220del MANE Select	NP_000531.2:p.Gly4407ValfsTer?
NM_001042723.2:c.13205del	NP_001036188.1:p.Gly4402ValfsTer?